Nazer Julio, Antolini Mónica, Juárez María Eugenia, Cifuentes Lucía, Hubner María Eugenia, Pardo Andrea, Castillo Silvia
Unidad de Neonatología, Hospital Clínico Universidad de Chile.
Rev Med Chil. 2003 Jun;131(6):651-8.
A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise.
To study the frequency of chromosomal aberrations in newborns with malformations.
In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations.
In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3%). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1% died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively.
A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously.
应对每一位有畸形的新生儿进行细胞遗传学研究。如果发现染色体畸变，必须对父母进行研究以提供充分的遗传咨询。
研究有畸形的新生儿中染色体畸变的频率。
在智利大学临床医院，作为拉丁美洲先天性畸形协作研究（ECLAMC）的一部分，对所有新生儿的畸形情况进行登记。通过细胞遗传学研究确定有畸形的新生儿中染色体畸变的频率。
在研究期间，共有32214例分娩。其中，2268例活产新生儿和43例死产儿有畸形。99例有畸形的儿童有染色体畸变（4.3%）。21三体是最常见的畸变，发生率为23/10000例分娩，其次是18三体，发生率为4/10000例，13三体发生率为1.2/10000例。这些儿童中94%为活产，16.1%在出院前死亡。唐氏综合征和18三体的男性指数分别为0.38和0.61。
此前尚未报道21三体女性发生率较高和18三体男性发生率较高的情况。
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