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Background: Nuchal cystic hygroma is the most frequently identified marker of chromosomal anomalies during first trimester screening. Objective: To determine the association of the nuchal cystic hygroma with chromosomal anomalies diagnosed with karyotyping done between the first and second trimesters of pregnancy. Design: Retrospective study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Patients. Fetuses with nuchal cystic hygroma. Methods: The data were obtained from the ILSAR database between August 2007 and May 2018, the cases diagnosed by ultrasound from week 11 to 13.6. Nuchal cystic hygroma was defined as the presence of septated liquid content in the nuchal axial section with a thickness above the 95th percentile value for increased nuchal translucency value for the crown-rump length. The karyotype was obtained between the first and second trimesters from material collected by chorionic villus sampling (BVS) or amniocentesis (AMC). Main outcome measures: Karyotyping results were compared between cases with cystic hygroma alone and cases with cystic hygroma in addition to another marker. Results: Out of 459 invasive procedures performed in fetuses with high risk for chromosomal anomalies based on the Fetal test database of Spain, there were 162 cases of chromosomal anomalies (35.3%), and 104 cases of nuchal cystic hygroma (22.7%). Nuchal cystic hygroma was associated with a higher frequency of chromosomal abnormalities, compared to fetuses without cystic hygroma (52.9% vs. 30.1%; p<0.001). Out of 61 cases of hygroma alone, 42.3% had chromosomal anomalies, and when the hygroma was associated with other markers (fetal hydrops, abnormal ductus venosus, heart disease), 65.1% had chromosomal abnormalities. There was a statistically significant difference (p=0.003) for the presence of monosomy X between the group with cystic hygroma alone and the group with hygroma and fetal hydrops. There was no difference in hygroma thickness betwe, Antecedentes. El higroma quístico retronucal es el marcador de anomalías cromosómicas identificado con mayor frecuencia en el tamizaje del primer trimestre. Objetivo. Evaluar la asociación del higroma quístico retronucal y anomalías cromosómicas diagnosticadas con el cariotipo, entre el primer y segundo trimestre del embarazo. Diseño. Estudio retrospectivo. Institución. Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Pacientes. Fetos con higroma quístico retronucal. Método. Estudio de fetos con higroma quístico retronucal, obtenidos de la base de datos de ILSAR, entre agosto del 2007 y mayo del 2018, diagnosticados por ecografía entre las 11 y 13,6 semanas. El higroma quístico retronucal se definió como la presencia de contenido líquido tabicado en el corte axial retronucal con un grosor mayor al percentil 95 del valor de translucencia nucal aumentada para la longitud corona-nalga. Se obtuvo el cariotipo entre el primer y segundo trimestre en material obtenido por biopsia de vellosidades coriales (BVC) o amniocentesis (AMC). Principales medidas de resultados. Los resultados del cariotipo fueron comparados entre los casos de higroma quístico solo y los casos que tuvieron higroma y adicionalmente otro marcador. Resultados. De un total de 459 procedimientos invasivos realizados en fetos con alto riesgo para anomalías cromosómicas en base al Fetal test de España, hubieron 162 casos de anomalías cromosómicas (35,3%) y se identificó 104 casos de higroma quístico retronucal (22s7%). El hallazgo de higroma quístico retronucal se asoció con mayor presencia de anomalías cromosómicas, comparado con los fetos sin higroma quístico (52,9% vs. 30,1%; p<0,001). De 61 casos de higroma solo, 42,3% tenían anomalía cromosómica, y cuando el higroma estaba asociado a otros marcadores (hidrops fetal, ductus venoso anormal, cardiopatía, ausencia de hueso nasal), hubo 65,1% de anomalías cromosómicas. Hubo diferencia estadística significativa (p=0,003) para la presencia

The results of a chromosomal test by genetic amniocentesis in 58 cases with an increased nuchal translucency (NT; ?3 mm thickness) revealed 47 cases showing a normal karyotype (81%) and 11 cases (19%) showing an abnormal karyotype. However, the cases of a normal karyotype with increased NT also included those with fetal abnormalities. Among the 49 cases in which NT was observed during the 1st trimester and then subsequently disappeared, chromosomal abnormalities were observed in 5 cases, and fetal abnormalities other than chromosomal abnormalities were observed in 2 cases. Meanwhile, all 9 cases in which an increased NT remained or in which NT continued to increase in size during the 2nd trimester were diagnosed to have cystic hygroma, and chromosomal abnormalities were found in 6 cases (67%). It should be noted that the shape of increased NT includes NT with a notch (Notched NT) and NT without a notch (Smoothed NT). Among the 20 cases of Notched NT, chromosomal abnormalities were observed in 8 cases (40%), and cystic hygroma was observed in 9 cases (45%). On the other hand, among the 38 cases of Smoothed NT, chromosomal abnormalities were observed in 3 cases (7.9%), but no cystic hygroma was observed. Our results clarified that increased NT does not always indicate a fetal abnormality. Whether the thickness of NT should be measured as screening of fetal abnormalities remains controversial. However, an increased NT may be detected by chance, because a maternal-fetal medical examination using ultrasonography is usually performed in Japan. It is therefore considered to be extremely important to establish a system in which cases are referred to obstetricians who are licensed clinical genetic specialists in order to obtain appropriate genetic counseling whenever an increased NT is clinically observed., Journal of Human Genetics, 53(8), pp.688-693; 2008

羊水検査は,出生前に胎児の健康状態を診断することを目的とする出生前診断の一つである.本稿では,羊水検査をめぐる意思決定に関連する要因について国内外の33文献を検討し,意思決定を支えるケアを発展させるうえでの課題を探索した.その結果,次のことが明らかになった.1)意思決定に関連する要因は,身体的,心理的,社会的側面から分類することができ,各々には次のカテゴリーが含まれた:身体的要因は高齢妊娠・染色体異常児の出産既往・その他の検査所見;心理的要因は不安・障害に対する不幸感;社会的要因の中の人的要因は夫や家族・医療者.2)羊水検査をめぐる妊婦の意思決定を支えるケアを発展させるうえでの課題として,次の3点を確認することができた.(1)当該妊婦が,妊娠している可能性のある染色体異常児の種類やその確率,所見などから予測できる具体的な障害の程度を把握したうえで,妊婦や家族が,染色体異常以外の先天異常や,障害というもの全般と混同しないような説明を行う必要があると考えられた.(2)妊婦や家族が,染色体異常を正しく理解したうえで,妊娠中の当該胎児に対して抱く不安や不幸感,羊水検査をめぐって家族間で生じる意見の衝突や葛藤を受けとめ,妊婦や家族の間に衝突が予測される場合には,調整を行う必要があると考えられた.(3) 医療者は,医療者自身の価値観だけにとらわれず,中立的で非指示的な態度をもって,妊婦や家族に対して情報提供を行うとともに,妊婦や家族の意思を尊重した援助を行う必要があると考えられた.