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Objective: To determine the current maternal and fetal selection criteria and operative approaches used at centers performing fetal myelomeningocele surgery., Methods: The 17 principal investigators participating in the Fetal Myelomeningocele Consortium were asked to participate in an anonymous online survey regarding the current practice of maternal-fetal surgery for neural tube defect repair and results were tabulated. The 35-question survey related to diagnostic testing, inclusion and exclusion criteria, and clinical management., Results: Sixty-five percent (11/17) of principal investigators responded to the survey and not all centers responded to all 35 questions. All centers continue to use magnetic resonance imaging in their preoperative evaluation. Diagnostic testing from amniocentesis is varied: 5 of 11 (45%) require amniotic fluid α-fetoprotein, 4 of 10 (40%) amniotic fluid acetylcholinesterase, and 8 of 11 (73%) DNA microarray. There is also variation from the Management of Myelomeningocele Study with regard to body mass index (BMI) (1/11; 9% would offer surgery with BMIs higher than 35), maternal medical risk factors (surgery would be offered for controlled pregestational diabetes [3/10 (30%)]), hepatitis C with negative viral load (4/11 [36%]), and human immunodeficiency virus with an undetectable viral load (1/10 [10%] or an obstetric history [3/11 (27%)] would offer surgery with a history of preterm delivery on progesterone). Ten of 11 (91%) centers did not consider ventriculomegaly of 18 mm and 9 of 11 (82%) centers did not consider lack of leg movement as an exclusion criteria. Nuances in the perioperative and intraoperative management were also reported, including 5 of 11 (45%) use intraoperative echocardiography and alterations in postoperative tocolytics., Conclusion: Variation in practice patterns for offering and performing maternal-fetal surgery for myelomeningocele repair exists among centers. Ongoing evaluation of inclusion and exclusion criteria as well as operative techniques is warranted to ensure continued safety, effectiveness, and beneficence.

Background: Non-immune fetal hydrops is a heterogeneous disorder with a mortality rate of 50-98%. Resolution of non-immune fetal hydrops is rare but has been reported to occur spontaneously or after targeted therapeutic measures., Case: A euthyroid gravida with Graves disease presented with a history of three prior perinatal deaths between 26 and 28 weeks' gestation, all associated with fetal hydrops. In the current pregnancy, the fetus developed hydrops at 24 weeks' gestation. Fetal hyperthyroidism, with high-output cardiac failure, was diagnosed with fetal blood sampling. After maternal therapy with propylthiouracil, resolution of the non-immune hydrops were documented and a healthy neonate subsequently delivered to term. The neonate developed transient hyperthyroidism after delivery, which required treatment for 10 weeks., Conclusion: Non-immune hydrops occurring as a result of fetal hyperthyroidism with high output cardiac failure is treatable with propylthiouracil.

Background: Abnormalities of the upper and lower extremities, such as club feet, rocker-bottom feet, and abnormal hand posturing, are frequently detected prenatally in trisomy 18 fetuses. Aplasia of the radius, usually associated with the absence or hypoplasia of the first metacarpal and thumb, is the most prevalent reduction malformation in trisomy 18 infants. Because this anomaly is easily missed during prenatal ultrasonography, the role of prenatal detection of this particular preaxial upper limb reduction has not been emphasized., Cases: Three cases of trisomy 18 in which preaxial upper limb reduction (radial aplasia) was identified prenatally by ultrasound are reported. Although in all cases there were additional ultrasonographic findings suggestive of trisomy 18, the prenatal detection of preaxial upper limb reduction facilitated the diagnosis., Conclusion: Ultrasonographic examination of fetal forearms for the detection of preaxial upper limb reduction should be a routine part of the prenatal evaluation of fetuses in whom trisomy 18 is suspected.

Objective: To test previously proposed but unproven antenatal ultrasound prognostic criteria in fetal gastroschisis., Methods: Thirty consecutive gastroschisis-affected pregnancies and their outcomes were reviewed retrospectively. Data were tabulated by review of antenatal ultrasound videotapes, with blinded comparison to indicators of short- and long-term infant outcomes obtained from the medical records. Criteria of previous reports were applied to these data, focusing on their ability to prognosticate effectively., Results: Applying a criterion of 10 mm bowel dilatation proved minimally useful in prognosticating infant outcomes. However, a stricter 17-mm criterion for clinically important bowel dilatation provided prognostic information, with remarkable improvement in specificity (75 versus 37%) and positive predictive value (55 versus 37%) for infant morbidity, with comparatively little loss of sensitivity (71 versus 85%)., Conclusions: Bowel dilated more than 17 mm on antenatal ultrasound appears to be associated with increased short- and long-term infant morbidity. Whether this finding warrants obstetric intervention in the preterm gastroschisis-affected pregnancy with substantial bowel dilatation remains to be determined.

Perinatal characteristics of 105 singleton live infants born during the last 5 years and suspected phenotypically of having karyotypic abnormalities were studied; 33 abnormal karyotypes were found. These pregnancies were compared with all pregnancies delivering at our hospital during the same time period. A retrospective analysis using our perinatal data base examined maternal age, gravidity, parity, race, mode of delivery, birth weight, gestational age at delivery, Apgar scores, and size for gestational age. Within the phenotypically abnormal group, karyotypically normal and abnormal infants showed no significant differences in primary cesarean rates, low Apgar scores, mean birth weight, or appropriateness of size for gestational age. Karyotypically abnormal infants were smaller than the general population (P less than .001) and had lower Apgar scores (P less than .05) but were just as likely to be full-term (66.7 versus 70.3%). These chromosomally abnormal pregnancies had a higher primary cesarean rate than the general population (30.3 versus 15.4%; P less than .001). Black infants undergoing genetic studies had a 37% rate of karyotypic abnormalities, which was significantly higher than the 12.5% rate in the white infants tested (P less than .05). The term black infant with phenotypic abnormalities suggestive of karyotypic abnormalities may be less likely to be recognized and appropriately tested. Increased awareness of phenotypic abnormalities with subsequent genetic testing seems warranted.