. Detecţia prenatală a deleţiei 2q21.1 la un făt cu restricţie severă precoce de creştere intrauterină: prezentare de caz şi review al literaturii

Abstract

Background. Early-onset fetal growth restriction (FGR) has a wide range of etiologies, including impaired placentation, congenital infections, genetic abnormalities, and toxic or environmental exposure. Depending on the size and location of the genomic region involved, 2q21.1 deletion can be associated with various clinical manifestations. Method and results. A 30-year-old primigravida was referred for early-onset severe symmetrical FGR at 22 weeks of gestational age, without any ultrasound signs of malformations. The karyotype of the fetus was 46,XY. Single-nucleotide polymorphism (SNP) microarray revealed a heterozygous deletion of 350kb in the chromosomal region 2q21.1, which contained five OMIM genes: SMPD4, MZT2B, CCDC115, IMP4, and PTPN18. The evolution of pregnancy was uneventful until 37+4 weeks, when a male infant weighing 1880 g was delivered by caesarean section, with Apgar scores of 6 and 9 at 1 and 5 minutes. The infant was discharged alive ten days after birth. Conclusions. The result of this study may be helpful for antenatal counseling of pregnant women with severe early onset of intrauterine growth restriction.