X Pentasomy in an Intracytoplasmic Sperm Injection Pregnancy Detected by Nuchal Translucency Testing

Abstract

Althoughmaternally derived X pentasomy following intracytoplasmic sperm injection (ICSI) is rare, prenatal detection of a case offers insight into etiology and diagnosis. A 29-year-old gravida 1 whose pregnancy resulted from ICSI was referred for ultrasound screening at 11 weeks’ gestation. Nuchal translucency thickness was 3.2 mm, and the fetal nasal bone was absent. Subsequent evaluation revealed karyotype 49,XXXXX. DNA microsatellite analysis showed the extra X chromosomes were maternal in origin. Termination of pregnancy was performed at 15 weeks. Because of the increased risk of sex chromosomal abnormalities in ICSI pregnancies, patients should be counseled prior to fertilization and standard prenatal care should include nuchal translucency measurement and any other elements necessary for indicated pregnancies to obtain a diagnosis.

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2

“…As illustrated in our case and in accordance with previously reported cases , prenatal diagnosis of penta X syndrome remains a challenge. Prenatal abnormalities are generally detected late in the pregnancy and are nonspecific.…”

Transient hydrops fetalis in a prenatally diagnosed pentasomy X?

“…6 The third case was diagnosed by increased nuchal translucency at 11 weeks' gestation after chorionic villous sampling. 2 Our case stands as the forth pentasomy X case reported in the literature and the second one to be detected in the second trimester.…”

“…The second case was diagnosed at 33 weeks' gestation, and had Dandy–Walker malformation, hydrocephaly, a ventricular septal defect, hypertelorism and polyhydramnios 6 . The third case was diagnosed by increased nuchal translucency at 11 weeks' gestation after chorionic villous sampling 2 . Our case stands as the forth pentasomy X case reported in the literature and the second one to be detected in the second trimester.…”

“…Pentasomy X is characterized by the presence of three extra X chromosomes in females. The pathophysiology may be due to either maternal or combined meiotic nondisjunction 1,2 . Pentasomy 49,XXXXY is seen in 1:85 000 live births, which is somewhat more common than other poly‐X syndromes 3 .…”

“…The pathophysiology may be due to either maternal or combined meiotic nondisjunction. 1,2 Pentasomy 49,XXXXY is seen in 1:85 000 live births, which is somewhat more common than other poly-X syndromes. 3 Pentasomy X is a rare condition, with only 32 cases published in the literature before.…”