We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9). Parental chromosome analysis showed both parents to be carriers of inv(9) and the parents are not consanguineous. Fetal ultrasound was normal. The mother presented to the clinic 4 weeks later with intrauterine fetal demise. Chromosome analysis from the placenta showed two different cell lines: a balanced (15;21) Roberstonian translocation in 11 cells and an unbalanced (21;21) Robertsonian translocation in 9 cells. The karyotype was interpreted as mos 45,XX,inv(9)(p11q13)x2,der(15;21)(q10;q10)[11]/46,XX,inv(9)(p11q13)x2,+21,der(21;21)(q10;q10). Mother was a carrier for the Cystic Fibrosis (delta F508), Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. She also had a sibling with term stillbirth. Her husband’s history was unremarkable. Our case appears to be another example of confined placental mosaicism (CPM) with normal fetal karyotype. However, we could not confirm the possibility that CPM contributed to the IUFD in our case given the complex medical history of the mother. 1. Introduction Intrauterine fetal death (IUFD) is a major problem in obstetrics. The overall IUFD rates have been estimated to be approximately 1% [1]. In pregnancy, a successful outcome is highly dependent on adequate placental development with low-resistance fetomaternal circulation [2]. Abnormal placentation in pregnancy could be due to several factors including confined placental mosaicism (CPM) and increased maternal tendency to venous thrombosis. Karyotype disparities between cytotrophoblast and fetal cells occur in 1-2% of cases [3]. In most of them, chromosomal abnormalities are confined to the placenta and may be associated with a poor perinatal outcome [4, 5]. Most such chromosome abnormalities involve aneuploidies, and autosomal trisomy being most common with structural mosaicism is rare and often difficult to interpret [6]. The phenomenon of “confined placental mosaicism (CPM)” is defined as tissue-specific mosaicism involving a cytogenetic abnormality limited to the placenta and absent in the fetus arising from an early mitotic error [7, 8]. Three types of CPM have been described. First, trisomic cytotrophoblast and diploid stroma; second, diploid
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