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Malignant melanoma is one of the most frequent cancers diagnosed during pregnancy. Any pigmented skin lesions that change the color should be examined by an experienced dermatologist and if suspected, should be biopsied. Recent studies showed that malignant melanoma in pregnancy has not a worse outcome compared with non-pregnant state. Diagnosis of melanoma does not require an early delivery excepted pregnant patients with poor prognosis that need more aggressive treatment. Diagnosis and treatment need to be established in specialized centers with a multidisciplinary team. Pregnancy monitoring should be performed by team consisting of an obstetrician, a neonatologist and a specialist in fetal medicine.

Pregnancy affects women's sleep in many ways. Physical and emotional difficulties, especially towards the end of pregnancy, can lead to sleep disorders. Several studies suggest associations between sleep quality and high blood pressure, diabetes and depression. Sleep deprivation affect both mother and fetus. Sleep disorders are associated with low birth weight, intrauterine growth restriction, premature birth and cesarean births. This paper is a review based on information from the literature. The analysis was limited to articles and guidelines in English published between January 1, 2000 and May 1, 2020 on PubMed, ScienceDirect and Google Scholar using the following keywords: sleep, pregnancy, depression, anxiety, mental health, sleep disorders, pregnant women, interventions, treatment. In this review, we discuss the characteristics of prenatal maternal sleep, hormonal changes during pregnancy and their effects on sleep, the effects of changing sleep patterns on the pregnant woman, and the interventions needed to optimize sleep quality. According to the literature, sleep disorders are significant risk factors for mood disorders. Knowing sleep changes and their effects is useful for informing mothers. Consideration of non-pharmacological treatments and interventions such as cognitive-behavioral therapy, mindfulness therapy and relaxation exercises can be effective in optimizing the quality of sleep in pregnant women.

Background: The hyperventilation test is used in clinical practice for diagnosis and therapeutic purposes; however, in the absence of a standardized protocol, the procedure varies significantly, predisposing tested subjects to risks such as cerebral hypoxia and ischemia. Near-infrared spectroscopy (NIRS), a noninvasive technique performed for cerebral oximetry monitoring, was used in the present study to identify the minimum decrease in the end-tidal CO2 (ETCO2) during hyperventilation necessary to induce changes on NIRS. Materials and Methods: We recruited 46 volunteers with no preexisting medical conditions. Each subject was asked to breathe at a baseline rate (8–14 breaths/min) for 2 min and then to hyperventilate at a double respiratory rate for the next 4 min. The parameters recorded during the procedure were the regional cerebral oxyhemoglobin and deoxyhemoglobin concentrations via NIRS, ETCO2, and the respiratory rate. Results: During hyperventilation, ETCO2 values dropped (31.4 ± 12.2%) vs. baseline in all subjects. Changes in cerebral oximetry were observed only in those subjects (n = 30) who registered a decrease (%) in ETCO2 of 37.58 ± 10.34%, but not in the subjects (n = 16) for which the decrease in ETCO2 was 20.31 ± 5.6%. According to AUC-ROC analysis, a cutoff value of ETCO2 decrease >26% was found to predict changes in oximetry (AUC-ROC = 0.93, p < 0.0001). Seven subjects reported symptoms, such as dizziness, vertigo, and numbness, throughout the procedure. Conclusions: The rise in the respiratory rate alone cannot effectively predict the occurrence of a cerebral vasoconstrictor response induced by hyperventilation, and synchronous ETCO2 and cerebral oximetry monitoring could be used to validate this clinical test. NIRS seems to be a useful tool in predicting vasoconstriction following hyperventilation.

Pulmonary Alveolar Proteinosis (PAP) is a rare, usually autoimmune, disease, where surfactant accumulates within alveoli due to decreased clearance, causing dyspnea and hypoxemia. The disease is even more rare in pregnancy; nevertheless, it has been reported in pregnant women and can even appear for the first time during pregnancy as an asthma-like illness. Therefore, awareness is important. Similarly to many autoimmune diseases, it can worsen during pregnancy and postpartum, causing maternal and fetal/neonatal complications. This paper offers a narrative literature review of PAP and pregnancy, while illustrating a case of a pregnant patient with known PAP who developed preeclampsia in the third trimester but had an overall fortunate maternal and neonatal outcome.

Superior vena cava (SVC) agenesis or total congenital absence of superior vena cava is a very rare vascular anomaly, mainly asymptomatic throughout neonatal period. We present a case of bilateral total congenital absence of superior vena cava and thoracic duct obstruction in a newborn which were detected during the anomaly scan at 22 weeks gestation as unilateral pleural effusion. Transthoracic echocardiography and angiography computed tomography in the postnatal period clearly established the diagnosis of congenital anomaly of the great veins. The pleural lymphatic effusion has resolved after drainage and medical treatment in 14 days.

Agenezia de venă cavă superioară este o anomalie rară, și în general în perioada neonatală este asimptomatică. Prezentăm cazul unui nou-născut cu agenezie bilaterală (totală) de venă cavă și obstrucție de duct toracic ce au determinat epanșament pleural unilateral evidențiat la morfologia fetală din săptămâna 22. Anomalia vasculară a fost confirmată postnatal prin ecografie cardiacă și angio-CT, fiind stabilit diagnosticul de anomalie de vene cave. Chilotoraxul a dispărut după primele 14 zile cu drenaj și tratament conservator

Parvovirus B19 infection is the most common cause of non-immune hydrops in fetuses. The risk of congenital infection is highest in the 1st and 2nd trimester and there are no current recommendations regarding screening of low-risk pregnancies. Recent exposure of the mother and ultrasound findings of fetal anemia or hydrops should include parvovirus B19 infection investigation. Adequate monitoring through ultrasound and Doppler determine the fetal and perinatal outcome as interventions as intrauterine blood transfusions are the main treatment.

Low back pain is a common complaint during pregnancy, affecting approximately half of pregnant women. However, true disc herniation is extremely rare, and the majority of patients heal without surgery. The purpose of this study was to provide an overview of conservative management strategies and delivery modes for pregnant patients suffering from lumbar disc herniation without severe neurologic deficits that would require emergency surgery. We performed a narrative review of the literature using the PubMed database. Thirty-one articles were originally retrieved, out of which 7 met the inclusion criteria, compiling a total of 10 cases of parturient patients with lumbar disc hernia treated conservatively until childbirth. The preferred delivery mode was a Cesarean section, which was performed in 6 out of 10 cases. Two patients developed the cauda equina syndrome, one during a failed induction and the other patient 4 weeks after vacuum extraction. However, the second patient failed to improve after surgery. No patients developed cauda equina syndrome during or after the Cesarean section. Based on limited data, the Cesarean section seems to be preferred compared to vaginal delivery to avoid worsening symptoms and progression to the cauda equina syndrome.

Respiratory failure in the premature newborn may be complicated by pulmonary hypertension (PAH) that does not always respond to conventional therapies. Conventional therapy for PAH involves: respiratory support, surfactant administration, sedation and / or muscle relaxation and inotropic agents in the most premature patients. Our experience in nitric oxide therapy in premature infants under 32 weeks dates back approximately 5 years. There were 7 cases of premature infants with respiratory failure who did not respond to conventional methods of therapy. We will present three case reports with hypoxic respiratory failure and severe pulmonary hypertension that responded favorably to nitric oxide therapy.

Insuficiența respiratorie la prematuri poate fi complicată de hipertensiunea pulmonară care uneori nu răspunde la terapiile convenționale. Terapia convențională pentru hipertensiunea pulmonară implică suport respirator, ce include ventilația și presiunea continuă de distensie, administrarea de surfactant, sedarea și/sau relaxarea musculară, dacă este necesar. Circulația sistemică este adesea menținută cu agenți inotropi la prematurii cei mai bolnavi. Experiența noastră în terapia cu oxid nitric la prematurii sub 32 de săptămâni a început în urmă cu 5 ani. Există până în prezent 7 cazuri de prematuri cu insuficiență respiratorie care nu au răspuns la terapiile convenționale. În acest articol, vom prezenta cele mai sugestive cazuri de insuficiență respiratorie cu hipertensiune pulmonară severă ce au răspuns favorabil la administrarea de oxid nitric.

Background. Oral anti-diabetics in the treatment of gestational diabetes mellitus have had different approaches among time in medical guidelines. The interest in this pregnancy-associated disease is due to the dramatic increase of rates of gestational diabetes but also to the significantly higher short-term and longterm implications for mother and off-spring. This article aims to review the literature and guidelines on current recommendations regarding oral therapy in gestational diabetes mellitus. Methods. A systematic literature electronic search for reviews and guidelines was undertaken using Pub Med and the official websites of Diabetes and Obstetrics and Gynecology associations. Conclusions. Whereas oral anti-diabetics are an attractive alternative approach to insulin, in the last guidelines published by the societies of Obstetrics and Gynecology and Diabetes a new trend is noticeable subtracting oral anti-diabetics as the first option because of the lack in high-quality data on long-term safety, higher rate of treatment failure and pharmacokinetics.

Background and Objectives: Emergency peripartum hysterectomy (EPH) is a life-saving surgical procedure performed when medical and surgical conservative measures fail to control postpartum hemorrhage. The objective of this study was to estimate the incidence of EPH and to determine the factors leading to this procedure and the maternal outcomes. Materials and Methods: A retrospective cohort study with all cases of EPH performed at Filantropia Clinical Hospital in Bucharest between January 2012 and May 2021. Results: There were 36 EPH, from a total of 36,099 births recorded. The overall incidence of EPH was 0.99 per 1000 deliveries, most cases being related to placenta accreta spectrum disorder and uterine atony. Conclusions: Peripartum hysterectomy is associated with an important maternal morbidity rate and severe complications. Efforts should be made to reduce the number of unnecessary cesarean deliveries.

Headache is a common complaint during pregnancy and the puerperium. The differentiation between a benign headache and a headache that has an underlying more endangering cause, such as an intracranial tumor, can be difficult and often requires diagnostic procedures and brain imaging techniques. We report the case of an 18-year-old female patient who developed clinical symptoms—persistent headache followed by neurological deficit—in the last part of her pregnancy. A medulloblastoma (MB) was diagnosed and treated after delivery. We review 11 other cases of MB in pregnancy reported in the literature. The most common clinical manifestation at diagnosis was headache followed by neurological deficits. We discuss the association of brain tumor growth with physiological changes during pregnancy. We conclude that clinical features of intracranial tumors can be misinterpreted as pregnancy-related symptoms and should not be dismissed.

Phyllodes Tumor (PT) is a rare fibroepithelial breast tumor that can behave differently depending on its biologic features. Traditionally, PTs are classified by their histologic features into benign, borderline, and malignant. In most cases that were reported, all PTs may recur, but only the borderline and malignant PT can metastasize. PT usually occurs as a breast lump or accidental finding on ultrasound (US) examination. The clinical features include a well-defined breast mass, regular or lobulated. The diagnosis is based on the integration of morphology features, but remains challenging, particularly in the distinction from fibroadenomas. We report a case of a 36-year-old patient who presented for a voluminous breast mass, rapidly growing in the past 3–4 months. At presentation, the patient was 19 weeks pregnant. The breast tumor had the clinical and US aspect of PT. A core needle biopsy was obtained, confirming a benign PT, and local excision was performed with no postoperative complications. The final pathology report showed a borderline PT with close resection margins of 1 mm. Immunohistochemistry (IHC) established the diagnosis of malignant PT with heterologous sarcomatous differentiation. The case was discussed in the multidisciplinary tumor board (MDT) and mastectomy was recommended. The patient fully consented but refused surgery at 25 weeks’ gestation, fearing premature delivery. The right breast was closely monitored by US, and at 9 weeks after the first surgery, signs of local recurrence were detected. At 35 weeks’ gestation, right mastectomy was performed, with no perioperative complications. The pregnancy was closely followed up and no complication were found. The final pathology report describes multiples PT recurrences with heterologous sarcomatous differentiation. The pregnancy outcome was uneventful, and the patient delivered a healthy child vaginally at term with no peripartum complication. Postpartum, a computer tomography (CT) examination of the head, thorax, abdomen and pelvis was performed, with no evidence of metastases. Adjuvant chemotherapy and radiotherapy completed the treatment. The follow-up and CT scan showed no metastases or further recurrence 4 years after diagnosis. In conclusion, diagnosis of PT can be difficult, especially because of the easy confusion with fibroadenoma of the breast. There are rare cases when a pathology exam needs further assessment and IHC is recommended for accurate diagnosis. Although malignant PT is rare and accounts for

Background and Objectives: In this study, we investigated the changes of platelet count and other platelet indices, such as mean platelet volume (MPV), in cases with severe early intrauterine fetal growth restriction (IUGR). Materials and Methods: We retrospectively analyzed all pregnancies diagnosed with severe early onset IUGR, that were followed up in our hospital between 2010 and 2015 (before implementation of screening and prophylaxis with aspirin). Pregnancies which resulted in birth of a newborn with a birthweight less than 5th percentile for gestational age, that required delivery for fetal or maternal indication before 32 weeks, were selected for the IUGR group. The IUGR cases were divided into two groups according to preeclampsia (PE) association. All cases with a complete blood count (CBC) performed within 7 days prior to delivery were included in the study, as the IUGR group. The control group included normal singleton pregnancies, delivered at term, with birthweight above 10th centile and a CBC taken at 30–32 weeks. Results: There was a significant difference in platelet count and MPV values between the IUGR group and control. Cases with IUGR presented lower platelet count and higher MPV values; there was no significant difference of these parameters when PE was associated with IUGR. Conclusions: Our results suggest that in cases of severe early IUGR, even in the absence of clinically diagnosed PE, there may be maternal endothelial damage and platelet consumption in the systemic and uteroplacental circulation. Platelet count and MPV values are simple and widely available laboratory tests that might be used as indicator of placental insufficiency; however, prospective data are required to establish the mechanistic link and to which extent these parameters are good predictors of severity or adverse perinatal outcomes.

Wharton’s jelly is a specialized connective tissue surrounding and protecting umbilical cord vessels. In its absence, the vessels are exposed to the risk of compression or rupture. Because the condition is very rare and there are no available antepartum investigation methods for diagnosis, these cases are usually discovered after delivery, frequently after in utero fetal demise. We report the fortunate case of a 29-year-old nulliparous woman, with an uncomplicated pregnancy, admitted at 39 weeks in labor where a persistently abnormal cardiotocographic trace led to delivery by cesarean section of a healthy 3500 g newborn. After delivery, a Wharton’s jelly anomaly was identified at the abdominal umbilical insertion (umbilical cord vessels, approximately 1 cm in length, were completely uncovered by Wharton’s jelly), which required surgical thread elective ligation. In the presence of a persistently abnormal CTG trace, in a pregnancy with no clinical settings suggestive of either chronic or acute fetal hypoxemia, the absence of Wharton’s jelly should be taken into consideration in the differential diagnosis.

Background and objectives: Rosai–Dorfman disease (RDD) is a type of histiocytosis that usually appears in young adults or children as bilateral cervical lymphadenopathy, but extranodal involvement in not uncommon. Although the pathogenesis is not entirely elucidated, recent studies showed a possible neoplastic process. Materials and methods: Our manuscript presents a rare case of Rosai–Dorfman disease of the breast, the management of this rare case, and a literature review. There are few cases reported of RDD of the breast (around 90 globally reported cases); the data is poor, and the management not yet standardized for these cases. The case reported here shows the importance of correct breast investigation, breast imaging, and ultrasound-guided biopsy that provided an accurate diagnosis and guided further management. Results: Although RDD of the breast was rarely presented as bilateral disease in other case reports, our case showed bilateral breast disease with the suspicion of breast cancer on imaging. Pathology and immunohistochemistry were of critical importance and showed a specific pattern for histiocytosis. A multidisciplinary approach was taken into consideration for these cases in order to establish the approach. Some patients underwent surgery, but watchful waiting and close follow-up were the preferred approach. Conclusions: RDD of the breast is a rare form of histiocytosis, with fewer than 100 globally published cases. Although the management of this disease is not established yet by guidelines, a follow-up approach should be enough for these patients, and surgery might be overtreatment. Mortality from RDD is very low due to comorbidities. A multidisciplinary team decision is important, and abstinence might significantly benefit these patients.

Granulosa cell tumor of the ovary (GCT) is a rare ovarian tumor with nonspecific symptoms. Studies reported that GCT are usually secreting estrogens and inhibins, especially inhibin B. It is considered that, in premenopausal women, irregular menses or secondary amenorrhea may be an early symptom of GCT and, in postmenopausal women, the most common manifestation is vaginal bleeding. Additionally, endometrial abnormalities can be associated due to estrogenic secretion. At reproductive age, high levels of inhibin, lead to low levels of FSH and secondary amenorrhea causing infertility. At times, increased levels of LH in women with GCT are observed and the pathogenesis is still unclear. Therefore, inhibin B level can differentiate GCT from other causes of secondary amenorrhea. We report the case of a 26-year-old nulliparous, women who presented in our clinic with secondary infertility lasting longer than 2 years, secondary amenorrhea, polycystic ovarian syndrome, and suspicion of right ovarian endometrioma on CT scan. The ultrasound examination revealed that the right ovary was transformed in an anechoic mass with increased peripheral vascularity having a volume of 10 cm3. This patient had high serum levels of inhibin B and LH but normal levels of FSH and estradiol. The preliminary diagnosis of granulosa cell tumor of the ovary was made. After counseling, the informed consent for treatment was obtained and the patient agreed to undergo surgery. An uneventful laparoscopy was performed with right oophorectomy and multiple peritoneal sampling. The histological diagnosis confirmed adult GCT limited to right ovary, with negative peritoneal biopsies (FIGO IA). After surgery the patient recovered fully and had normal menstrual cycles with normal serum levels of hormones. Two months later she conceived spontaneously and had an uneventful pregnancy. In conclusion, for cases with secondary amenorrhea, the evaluation of inhibin B level is essential. Elevated inhibin B level may be a sign for the presence of an unsuspected tumor. With early diagnosis and treatment, the prognosis is generally good and the fertility may be preserved, especially in young patients with GCT.

Preconception counseling is an essential tool for preventing adverse pregnancy outcomes associated with thyroid dysfunction. The high prevalence of thyroid disease among women of reproductive age, and the increased risk of adverse pregnancy outcomes associated with thyroid dysfunction, emphasize the necessity for well-established screening and treatment criteria in the preconception period. We therefore conducted a literature review for relevant information on the screening, diagnosis and treatment of subclinical and overt hypothyroidism in women seeking pregnancy. While screening for thyroid disease is recommended only in the presence of risk factors, iodine supplementation should be recommended in most regions, with higher doses in areas with severe deficiency. Known hypothyroid women should be counseled about increasing their levothyroxine dose by 20–30% in the case of suspected or confirmed pregnancy (missed menstrual cycle or positive pregnancy test). Treating subclinical hypothyroidism appears to be beneficial, especially in the presence of autoimmunity or in patients undergoing artificial reproductive techniques. Regarding the management of TPOAb negative SCH women or euthyroid women with positive TPOAb, further research is necessary in order to make evidence-based recommendations.

Background and Objectives: Myelomeningocele is the most severe form of spina bifida, a congenital neural tube defect arising from an incomplete neural tube closure during early development with damage worsening with advancing gestational age. The Management of Myelomeningocele Study (MOMS) Trial proved that surgery performed before 26 weeks of gestation significantly improved the prognosis, significantly changing treatment paradigms. This article aims to provide a review of the changes and updates in spina bifida repair over the 10-year period following the MOMS Trial. Material and methods: We performed a systematic review in the PubMed and Cochrane databases as well as a hand-search of high-impact journals using the reference list of all identified articles, searching for randomized controlled trials and observational studies. Results: We identified 27 articles published between 2011 and 2021 that fulfilled the inclusion criteria and review them in the present study. Conclusions: With growing experience and with the improvement of prenatal open and fetoscopic techniques, the outcome of SB-associated conditions could be improved and the risks to both the mother and the fetus reduced. A continuous follow-up of the treated infants and further randomized trials are essential to study the complications and advantages or disadvantages of any given treatment strategy.

Congenital heart disease (CHD) is the most common birth defect, with a reported prevalence of 5–12 per 1000 live births. Very recently, the American Institute of Ultrasound in Medicine published a guideline recommending the use of the four-chamber and the three-vessel and trachea views to screen for CHD in the first trimester of pregnancy. Our aim is to present abnormal image patterns that are seen in the four-chamber, three-vessel, and trachea views of the fetal heart in the first trimester and to describe their association with specific CHD types. We used a total of 29 cases of CHD from the archives of Filantropia Hospital and the Maternal and Child Health Institute (INSMC) fetal medicine units. We selected cases with a clear and well-documented diagnosis of the CHD type. We identified a series of repeating color doppler flow patterns seen in the four-chamber, three-vessel, and trachea views of the studied cases. Our observations could be developed into a diagnosis algorithm to orientate the examiner to the most likely type of CHD in individual cases.

Heterotopic pregnancy is the condition where both intrauterine and ectopic pregnancy are present. It rarely occurs after natural conception, but is more common with assisted reproductive techniques, when more than one embryo is transferred. Quadruplet heterotopic pregnancy is exceedingly rare. Methods: A literature review was conducted aiming to highlight the diagnosis difficulties and the management options in heterotopic quadruplet pregnancies. Results: Nine relevant studies were identified by researching PubMed up to 2021 for “heterotopic quadruplet pregnancy”, “quadruplet intrauterine and ectopic pregnancy”, “synchronous intrauterine and ectopic pregnancy”. Conclusions: In this paper, we present a case of heterotopic quadruplet pregnancy and address the difficulty in diagnosing this condition and make formal recommendations.

Meningiomas are common primary tumors of the central nervous system. The incidence at the age of fertility is low, although there are some hormonal mechanisms involved. Growth in size was observed during the luteal phase of the menstrual cycle, which could lead to developing new symptoms during pregnancy or worsening of the already existing ones. Visual impairment is the chief complaint, followed by headache, nausea, vomiting, and seizures. Diagnosis is based on neurological examination, ophthalmoscopy, imaging techniques like gadolinium-enhanced magnetic resonance imaging (MRI), and contrast-enhanced computed tomography (CT) scans, bearing in mind the patient’s irradiation and prejudice on the fetus together with the histopathological examination. The objective of the review is to determine the influence of meningioma on pregnancy and vice-versa and provide a strategy of follow-up for maternal-fetal specialists and not only. We performed a systematic review by searching relevant information in PubMed and Wiley databases using keywords as meningioma, pregnancy, progesterone receptors. The results showed that besides a similar incidence of meningioma in pregnant and non-pregnant women, symptoms might flare during pregnancy due to water retention, engorgement of vessels, and the presence of sex hormone receptors on tumor cells. Meningioma may impact the route of pregnancy with adverse effects on the fetus. Thus, fetal monitoring by biophysical profile and cardiotocography (CTG) is needed. The preferred treatment option is surgery, but gestational age and the woman’s status must be taken into consideration.

There is consistent evidence that many of the pregnancy complications that occur late in the second and third trimester can be predicted from an integrated 11–13 weeks visit, where a maternal and fetal assessment are comprehensively performed. The traditional aims of the 11–13 weeks visit have been: establishing fetal viability, chorionicity and dating of the pregnancy, and performing the combined screening test for common chromosomal abnormalities. Recent studies have shown that the first trimester provides important information that may help to predict pregnancy complications, such as preeclampsia and fetal growth restriction, stillbirth, preterm birth, gestational diabetes mellitus and placenta accreta spectrum disorder. The aim of this manuscript is to review the methods available to identify pregnancies at risk for adverse outcomes after screening at 11–13 weeks. Effective screening in the first trimester improves pregnancy outcomes by allowing specific interventions such as administering aspirin and directing patients to specialist clinics for regular monitoring.

Pregnancy complications such as gestational diabetes (GDM) and hypertensive disorders of pregnancy (HDP) are frequent and influence not only fetal outcomes but also the maternal cardiac function. GDM and HDP may act as a proxy for increased metabolic and cardiovascular risk later in life. Speckle tracking echocardiography (STE) is a relatively new imaging technique that provides more sensitive assessment than conventional echocardiography of the maternal cardiac function. Recent research suggests that STE can be used during pregnancy and postpartum as a useful method of early detection of subclinical maternal cardiac changes related to pregnancy complications, such as GDM and HDP, and as an indicator for future maternal cardiovascular disorders. The aim of this review was to underline the current value of STE in the follow-up protocol of high-risk pregnant women, as a mean for pre- and postpartum monitoring. A review of the literature was conducted in the PubMed database to select relevant articles regarding the association of STE changes and HDP or GDM in the prenatal and postpartum maternal evaluations. Both GDM and HDP are associated with subtle myocardial changes in shape, size and function; these preclinical cardiac changes, often missed by conventional evaluation, can be detected using STE. Left ventricular global circumferential strain might be an important predictor of maternal cardiovascular disorders and might help to define a high-risk group that requires regular monitoring later in life and timely intervention.

Objective To examine the performance of screening for pre-eclampsia (PE) at 35-37 weeks' gestation by maternal factors and combinations of mean arterial pressure (MAP), uterine artery pulsatility index (UtA-PI), serum placental growth factor (PlGF) and serum soluble fms-like tyrosine kinase-1 (sFlt-1). Methods This was a prospective observational study in women with singleton pregnancy attending for an ultrasound scan at 35 + 0 to 36 + 6 weeks as part of routine pregnancy care. Bayes' theorem was used to combine the prior distribution of gestational age at delivery with PE, obtained from maternal characteristics and medical history, with various combinations of biomarker multiples of the median (MoM) values to derive the patient-specific risks of delivery with PE. The performance of such screening was estimated. Results The study population of 13 350 pregnancies included 272 (2.0%) that subsequently developed PE. In pregnancies that developed PE, the MoM values of MAP, UtA-PI and sFlt-1 were increased and PlGF MoM was decreased. At a risk cut-off of 1 in 20, the proportion of the population stratified into high risk was about 10% of the total, and the proportion of cases of PE contained within this high-risk group was 28% with screening by maternal factors alone; the detection rate increased to 53% with the addition of MAP, 67% with the addition of MAP and PlGF and 70% with the addition of MAP, PlGF and sFlt-1. The performance of screening was not improved by the addition of UtA-PI. The performance of screening depended on the racial origin of the women; in screening by a combination of maternal factors, MAP, PlGF and sFlt-1 and use of the risk cut-off of 1 in 20, the detection rate and screen-positive rate were 66% and 9.5%, respectively, for Caucasian women and 88% and 18% for those of Afro-Caribbean racial origin. Conclusion Screening by maternal factors and biomarkers at 35-37 weeks' gestation can identify a high proportion of pregnancies that develop late PE. The performance of screening depends on the racial origin of the women. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Key Clinical Message In the presence of megacystis in the second half of pregnancy, with increased amniotic fluid, especially in a female fetus, the most likely diagnostic result is megacystis, microcolon, intestinal hypoperistalsis syndrome, MMIHS. In these cases, the diagnosis of MMIHS should be strongly considered instead of lower urinary tract obstruction.

During gestation, the maternal body should increase its activity to fulfil the demands of the developing fetus as pregnancy progresses. Each maternal organ adapts in a unique manner and at a different time during pregnancy. In an organ or system that was already vulnerable before pregnancy, the burden of pregnancy can trigger overt clinical manifestations. After delivery, symptoms usually reside; however, in time, because of the age-related metabolic and pro-atherogenic changes, they reappear. Therefore, it is believed that pregnancy acts as a medical stress test for mothers. Pregnancy complications such as gestational hypertension, preeclampsia and gestational diabetes mellitus foreshadow cardiovascular disease and/or diabetes later in life. Affected women are encouraged to modify their lifestyle after birth by adjusting their diet and exercise habits. Blood pressure and plasmatic glucose level checking are recommended so that early therapeutic intervention can reduce long-term morbidity. Currently, the knowledge of the long-term consequences in women who have had pregnancy-related syndromes is still incomplete. A past obstetric history may, however, be useful in determining the risk of diseases later in life and allow timely intervention.

Mirror syndrome (MS) or Ballantyne’s syndrome is a rare maternal condition that can be life-threatening for both mother and fetus. The condition is characterized by maternal signs and symptoms similar to those seen in preeclampsia in the setting of fetal hydrops. Despite recent advances in the field of maternal-fetal medicine, the etiopathogenesis of MS remains elusive. For patients and doctors, the COVID-19 pandemic has become an extra hurdle to overcome. The following case illustrates how patients’ non-compliance associated with mirror syndrome and SARS-CoV-2 infection led to the tragic end of a 19-year-old patient. Therefore, knowledge of the signs and symptoms of mirror syndrome should always be part of the armamentarium of every obstetrician.

Objective To compare the degree of impaired placentation in pregnancies which develop preeclampsia (PE) in women with and without chronic hypertension (CH). Methods The data for this study were derived from prospective screening for adverse pregnancy outcomes in women with singleton pregnancies attending for their first routine hospital visit at 11+0-13+6 weeks’ gestation. This visit included recording of maternal characteristics and medical history and measurements of mean arterial pressure (MAP), uterine artery pulsatility index (UTPI), serum placental growth factor (PLGF) and serum pregnancy associated plasma protein-A (PAPP-A). The measured biomarkers were converted to multiples of the median (MoM) after adjustment for pregnancy characteristics and MoM values in women with CH that developed PE (n = 283) were compared to those of women without CH that developed PE (n = 2,236). Results In both groups with and without CH the measurements of MAP and UTPI were increased, whereas those of PLGF and PAPP-A were decreased and the deviation from normal in all biomarkers decreased with advancing gestational age at delivery with PE. There was no significant difference between those with and without CH in the slope of the regression line of Log10 MoM biomarker values with gestational age at delivery with PE for any of the biomarkers. However, there was a significant difference in the intercepts and coefficients of biomarkers in the two groups; in the CH group, compared to those without CH, the MAP MoM was higher (p

Objective To examine the effect of chronic hypertension (CH), with and without superimposed preeclampsia (PE), on the incidence of small for gestational age (SGA) neonates, and explore possible mechanisms for such association. Methods The data for the study were derived from prospective screening for adverse pregnancy outcomes in women with singleton pregnancies attending for their first routine hospital visit at 11-13 weeks’ gestation, which included recording of maternal characteristics and medical history and measurement of mean arterial pressure (MAP). Birth weight z-score, adjusted for gestational age and for maternal and pregnancy characteristics, and incidence of SGA were compared between those with and without CH in the total population and in the subgroups with and without PE. Regression analysis was used to examine the relationship between MAP and birth weight z-score and incidence of SGA and PE in those with and without CH. Results The study population constituted 74,226 pregnancies, including 1,052 (1.4%) with CH and 73,174 without CH. Preeclampsia developed in 233 (22.1%) cases of the group with CH and in 1,662 (2.3%) of those without CH. In the group that developed PE, there was no significant difference between those with CH and those without CH in either the median birth weight z-score or the incidence of SGA. In the group without PE, the incidence of SGA was twice as high in those with than in those without CH. There was a significant association between log10 MAP multiple of the median and incidence of SGA and PE which was more marked in those with CH than in those without CH. Conclusion CH is associated with increased risk of SGA and PE and this is related to MAP at 11-13 weeks’ gestation.

Objective To examine the association between chronic hypertension (CH) and a wide range of adverse pregnancy outcomes after adjustment for confounding factors in obstetric history and maternal characteristics. Methods This was a prospective screening study for adverse pregnancy outcomes in women with singleton pregnancy attending their first routine hospital visit at 11 + 0 to 13 + 6 weeks' gestation. Data on maternal characteristics, medical and obstetric history and pregnancy outcome were collected. Regression analysis was performed to examine the association between CH and adverse pregnancy outcomes, including late miscarriage, stillbirth, pre-eclampsia (PE), gestational diabetes mellitus (GDM), spontaneous and iatrogenic preterm birth (PTB), small-for-gestational-age (SGA) neonate, large-for-gestational-age (LGA) neonate and elective and emergency Cesarean section (CS). Results The study population of 109 932 pregnancies included 1417 (1.3%) women with CH. After adjusting for potential confounding variables from maternal characteristics, medical and obstetric history, CH was associated with increased risk of stillbirth (odds ratio (OR), 2.38 (95% CI, 1.51–3.75)), PE (OR, 5.76 (95% CI, 4.93–6.73)), SGA (OR, 2.06 (95% CI, 1.79–2.39)), GDM (OR, 1.61 (95% CI, 1.27–2.05)), iatrogenic PTB < 37 weeks (OR, 3.73 (95% CI, 3.07–4.53)) and elective CS (OR, 1.79 (95% CI, 1.52–2.11)), decreased risk of LGA (OR, 0.65 (95% CI, 0.53–0.78)) and had no significant effect on late miscarriage, spontaneous PTB or emergency CS. Conclusion CH should be combined with other maternal characteristics and medical and obstetric history when calculating an individualized adjusted risk for adverse pregnancy complications. CH increases the risk of stillbirth, PE, SGA, GDM, iatrogenic PTB and elective CS and reduces the risk for LGA. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

We present a family in which the first child was diagnosed with dopa-responsive dystonia based on biochemical findings only. Dopa-responsive dystonia is a severe heterogeneous genetic disease. The possibly involved genes are GCH1 and TH. In their second pregnancy, the parents came for genetic counseling and prenatal diagnosis late, at 12 weeks of gestation. Genetic testing in the affected child was performed, but the results were difficult to interpret. The identified mutations were classified as VOUS – variants of unknown clinical significance. Although possibly causative, a homozygous variant in the TH gene was not reported before in children with dopa-responsive dystonia. Due to limited time, establishing the fetal prognosis was challenging. Our report emphasizes the importance of a multidisciplinary approach in the context of new diagnostic techniques, such as Next Generation Sequencing. We illustrate the fact that behind any laboratory result remains sophisticated clinical judgment. We also describe a previously not reported variant of the TH gene in a child with severe, early-onset dystonia.

Background: Justification of prenatal screening for small for gestational age (SGA) fetuses near term is based on first, evidence that such fetuses / neonates are at increased risk of stillbirth and adverse perinatal outcome, and second, the expectation that these risks can be reduced by medical interventions, such as early delivery. However, there are no randomized studies demonstrating that routine screening for SGA fetuses and appropriate interventions in the high risk group can reduce adverse perinatal outcome. Before such meaningful studies can be undertaken it is essential that first, the best approach for effective identification of SGA neonates is determined, and second, the contribution of SGA neonates to the overall rate of adverse perinatal outcome is established. In a previous study of pregnancies that had undergone routine ultrasound examination at 35+0 36+6 weeks’ gestation, we found that first, screening by estimated fetal weight (EFW) 85% of SGA neonates requires use of EFW

Fetal arrhythmias are mostly benign and transient. However, some of them are associated with structural defects or can cause heart failure, fetal hydrops, and can lead to intrauterine death. The analysis of fetal heart rhythm is based on ultrasound (M-mode and Doppler echocardiography). Irregular rhythm due to atrial ectopic beats is the most common type of fetal arrhythmia and is generally benign. Tachyarrhythmias are diagnosed when the fetal heart rate is persistently above 180 beats per minute (bpm). The most common fetal tachyarrhythmias are paroxysmal supraventricular tachycardia and atrial flutter. Most fetal tachycardias can be terminated or controlled by transplacental or direct administration of anti-arrhythmic drugs. Fetal bradycardia is diagnosed when the fetal heart rate is slower than 110 bpm. Persistent bradycardia outside labor or in the absence of placental pathology is mostly due to atrioventricular (AV) block. Approximately half of fetal heart blocks are in cases with structural heart defects, and AV block in cases with structurally normal heart is often caused by maternal anti-Ro/SSA antibodies. The efficacy of prenatal treatment for fetal AV block is limited. Our review aims to provide a practical guide for the diagnosis and management of common fetal arrythmias, from the joint perspective of the fetal medicine specialist and the cardiologist.

Gestational diabetes mellitus (GDM) is recognized as one of the most common medical complications of pregnancy that can lead to significant short-term and long-term risks for the mother and the fetus if not detected early and treated appropriately. Current evidence suggests that, with the use of appropriate screening programs for GDM, those women diagnosed and treated have reduced perinatal morbidity. It has been implied that, when screening for GDM, there should be uniformity in the testing used and in further management. This paper summarizes and compares current screening strategies proposed by international bodies and discusses application in the context of the COVID-19 pandemic.

To examine whether in patients with CH and mild to moderate hypertension the level of control of blood pressure during pregnancy has a beneficial or adverse effect on the risk of PE or SGA.We performed a systematic review and meta-analysis of randomized controlled trials of patients with mild to moderate CH in pregnancy that reported the impact of different levels of control of blood pressure on the risk of PE or SGA. We completed a literature search through PubMed, Embase, Cinahl, Web of science, Cochrane CENTRAL Library Relative risks with random effect were calculated with their 95% confidence intervals (95%CI).Six trials including 495 participants provided data on blood pressure (BP) after entry to the study. Four studies compared antihypertensive agents to no treatment and two studies compared antihypertensive agents to placebo. All trials were conducted between 1976 and 1990 and were considered to be at high risk of bias. There was high heterogeneity between studies for mean arterial pressure (MAP) after randomization (IThe findings of the meta-analysis suggest that lowering the blood pressure by antihypertensive medication in women with mild to moderate hypertension in the context of CH has no significant effect on the risk of SGA or PE.

Objectives: This study describes the prenatal diagnosis of body stalk anomaly (BSA) in a large series of affected pregnancies and proposes an algorithm for the differential diagnosis of abdominal wall defects in the first trimester. Methods: This was a retrospective study of all the cases of BSA diagnosed in our tertiary unit between 2009 and 2015. In all cases, we performed a detailed ultrasound examination with particular emphasis on the appearance of the amniotic membrane and content of the amniotic sac and the coelomic cavity. Results: The study included 17 cases of BSA (15 singleton pregnancies, one dichorionic-diamniotic twin pregnancy discordant for BSA and one case of conjoined twins) at a median gestational age of 12+3 (range 11+0 to 16+6) weeks. In all cases, the liver and bowel were herniated into the coelomic cavity and the amniotic sac was intact containing the rest of the fetus with a normal amount of amniotic fluid; additionally, there was severe kyphoscoliosis and positional abnormalities of the lower limbs. The umbilical cord was absent, but umbilical vessels were seen with color Doppler running from the placenta to the fetus marginally to the eviscerated abdominal content. Conclusion: BSA can be easily diagnosed from 11 weeks' gestation. Examination of the amniotic membrane continuity, content of both the amniotic sac and coelomic cavity and a short umbilical cord help in differentiating this condition from other abdominal wall defects.

Objective To examine the association between chronic hypertension (CH) and a wide range of adverse pregnancy outcomes after adjustment for confounding factors in obstetric history and maternal characteristics. Methods This was a prospective screening study for adverse pregnancy outcomes in women with singleton pregnancy attending their first routine hospital visit at 11 + 0 to 13 + 6 weeks' gestation. Data on maternal characteristics, medical and obstetric history and pregnancy outcome were collected. Regression analysis was performed to examine the association between CH and adverse pregnancy outcomes, including late miscarriage, stillbirth, pre-eclampsia (PE), gestational diabetes mellitus (GDM), spontaneous and iatrogenic preterm birth (PTB), small-for-gestational-age (SGA) neonate, large-for-gestational-age (LGA) neonate and elective and emergency Cesarean section (CS). Results The study population of 109 932 pregnancies included 1417 (1.3%) women with CH. After adjusting for potential confounding variables from maternal characteristics, medical and obstetric history, CH was associated with increased risk of stillbirth (odds ratio (OR), 2.38 (95% CI, 1.51–3.75)), PE (OR, 5.76 (95% CI, 4.93–6.73)), SGA (OR, 2.06 (95% CI, 1.79–2.39)), GDM (OR, 1.61 (95% CI, 1.27–2.05)), iatrogenic PTB < 37 weeks (OR, 3.73 (95% CI, 3.07–4.53)) and elective CS (OR, 1.79 (95% CI, 1.52–2.11)), decreased risk of LGA (OR, 0.65 (95% CI, 0.53–0.78)) and had no significant effect on late miscarriage, spontaneous PTB or emergency CS. Conclusion CH should be combined with other maternal characteristics and medical and obstetric history when calculating an individualized adjusted risk for adverse pregnancy complications. CH increases the risk of stillbirth, PE, SGA, GDM, iatrogenic PTB and elective CS and reduces the risk for LGA. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.