Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Medical Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts.
Birth Defects Res. 2018 Jan;110(2):114-121. doi: 10.1002/bdr2.1097.
Stillbirth, defined as death of a fetus in utero after 20 weeks of gestation, occurs in 1 to 2% of pregnancies in the United States. Many of these stillborn infants have associated malformations, including chromosome abnormalities, neural tube defects, and malformation syndromes. Other causes are abnormalities of the placenta and maternal conditions, such as pre-eclampsia and obesity. A consecutive sample of malformed stillborn infants can establish the relative frequency and severity of the associated malformations.
Stillbirths were identified in the Active Malformations Surveillance Program at Brigham and Women's Hospital (1972-2012). The findings at autopsy, including the findings in the placenta and the results of diagnostic studies, were compiled.
One hundred twenty-seven stillborn infants with malformations were identified at autopsy among 289,365 pregnancies, including trisomies 21, 18, and 13; 45,X; triploidy; anencephaly; lower urinary tract obstruction; holoprosencephaly and severe heart defects, such as hypoplastic left heart syndrome and tetralogy of Fallot with pulmonary atresia. The severity of the abnormalities in stillborn infants was more severe than the spectrum of abnormalities identified in live-born infants.
An autopsy of the stillborn fetus, including chromosome microarray and an examination of the placenta, can identify the underlying causes of the stillbirth. This review of stillborn fetuses with malformations showed that several different lethal malformations and heart defects are more common than among live-born infants. These postmortem examinations can improve the counseling of the parents about risks in future pregnancies. Birth Defects Research 110:114-121, 2018.© 2018 Wiley Periodicals, Inc.
死产是指妊娠 20 周后胎儿在子宫内死亡，在美国约占 1%至 2%的妊娠。这些死产儿中许多存在相关畸形，包括染色体异常、神经管缺陷和畸形综合征。其他原因包括胎盘异常和母体状况，如子痫前期和肥胖症。连续采集畸形死产儿样本可以确定相关畸形的相对频率和严重程度。
在布莱根妇女医院的主动畸形监测计划（1972-2012 年）中确定死产。汇编尸检结果，包括胎盘的发现和诊断研究的结果。
在 289365 例妊娠中，通过尸检鉴定了 127 例有畸形的死产儿，包括 21 三体、18 三体和 13 三体；45,X；三倍体；无脑畸形；下尿路梗阻；全前脑和严重心脏缺陷，如左心发育不全综合征和肺动脉闭锁四联症。死产儿的畸形严重程度比活产儿的畸形严重程度更为严重。
对死胎进行尸检，包括染色体微阵列和胎盘检查，可以确定死产的潜在原因。对有畸形的死产儿的这一回顾性研究表明，几种不同的致死性畸形和心脏缺陷比活产儿更为常见。这些尸检可以改善对父母未来妊娠风险的咨询。出生缺陷研究 110:114-121,2018.© 2018 Wiley Periodicals, Inc.
