Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data

Prenatal Diagnosis
Yusuf TuncaMarc Abramowicz

Abstract

Prenatal diagnosis of autosomal recessive primary microcephaly (MCPH) is hampered by the fact that fetal head size is normal until late in the pregnancy, and by the vast genetic heterogeneity and impractically large size of the currently known genes for the disorder. Combine DNA and morphometric approaches into earlier prenatal diagnosis of MCPH. We evaluated two consanguineous families affected with MCPH with an ongoing, second-trimester pregnancy. Fetal heads were evaluated by serial ultrasound scannings, and DNA was sampled from parents, probands, and fetal cells, for a focused mutation search and linkage analysis. DNA linkage analysis and fetal head morphometry were concordant in one family and probably concordant in the second, showing a healthy fetus and an affected fetus, respectively. Cautious confrontation of linkage and morphometric data in selected cases of MCPH from consanguineous families may decrease false-positive and false-negative errors of second-trimester prenatal diagnosis.

References

Jul 1, 1987·American Journal of Medical Genetics·J L TolmieJ M Connor
Nov 9, 2000·American Journal of Human Genetics·C R JamiesonM J Abramowicz
Mar 23, 2001·Current Opinion in Neurology·G H Mochida, C A Walsh
Oct 2, 2002·Nature Genetics·Jacquelyn BondC Geoffrey Woods
Apr 5, 2005·American Journal of Human Genetics·C Geoffrey WoodsWolfgang Enard

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Citations

Sep 23, 2011·Genes & Development·Joshua J BuchmanLi-Huei Tsai
Nov 26, 2009·Progress in Neurobiology·Angela M KaindlPierre Gressens
Dec 7, 2017·Frontiers in Cellular Neuroscience·James Gilbert, Heng-Ye Man
Oct 10, 2006·Prenatal Diagnosis·Julie DesirYusuf Tunca
Mar 14, 2007·Current Opinion in Obstetrics & Gynecology
Aug 18, 2021·Molecular Genetics & Genomic Medicine·Sarah DuerinckxMarc Abramowicz

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