Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?

Abstract

Purpose To evaluate obstetric and neonatal outcomes as well as long-term neurodevelopmental outcomes and quality of life among prenatally detected cases of mosaic trisomy (MT16) and confined placental mosaicism (CPM) for trisomy 16. Methods We recruited participants for this cross-sectional study through an international registry of families with children diagnosed with MT16 or CPM. Parents were interviewed about expectations based on prenatal counseling as well as about actual perinatal outcomes, congenital anomalies, medical conditions, and school progress. Health-related quality of life (HRQOL) was assessed via the Pediatric Quality of Life Inventory 4.0 Generic Core Scales. Results Forty-four families were enrolled, and 68.2% of the children were female. Common complications were gestational hypertension (gHTN) or preeclampsia (38.1%), preterm delivery (PTD; 71.4%), cesarean delivery (CD; 73.8%), birth weight <10th percentile (73.8%), neonatal intensive care unit (NICU) admission (88.1%), and congenital anomalies (59.5%). However, 81.8% of school-aged children were entirely in mainstream classes, and median physical, psychosocial, and total HRQOL scores were high: 90.6 (34.4–100), 86.7 (35–100), and 84.8 (34.8–100), respectively (100 = optimal quality of life). Conclusion Several obstetric and neonatal complications are common with pregnancies affected by MT16 or CPM. However, the majority of children demonstrate normal neurodevelopmental outcomes and high HRQOL.

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

“…Fetal loss because of FGR occurred in 2 cases with extra copies of chromosome 16 at NIPT. In the literature, aneuploidies of several other chromosomes have been involved in CPM leading to fetoplacental disease, such as trisomy 2, trisomy 15, trisomy 22, and others . Thus, fetal growth should be closely monitored if rare false positive autosomal aneuploidies are detected by NIPT, as they may signal abnormal placental karyotype.…”

Pregnancy course and outcomes in mosaic trisomy 16 confined to the placenta: A case series

“…Fetal and maternal outcomes of MT16 are variable and with no predictable pattern, making pregnancy management challenging. While normal outcome can occur in some cases, MT16 confined to the placenta often leads to a high risk of intrauterine growth restriction (IUGR), stillbirth, preeclampsia, preterm delivery, developmental delay, and neonatal death . This pathology is rare, but several case reports and small series have been published during the last 20 years .…”

“…13 Normal neonatal outcomes and no severe neurodevelopmental retardation in newborns can occur despite pregnancy complications. 4 Even though there is a lack in long-term childhood outcome studies, lately Sparks et al, carried out a cross-sectional survey study (44 families) allowing to conclude that the majority of children demonstrate normal neurodevelopmental outcomes and high health-related quality of life. 4 Four of the six cases we report had elective delivery, and neonates were all admitted to neonate intensive care unit because of prematurity and low birth weight (Table 1).…”

Current controversies in prenatal diagnosis 2: Cell‐free DNA prenatal screening should be used to identify all chromosome abnormalities

“…However, for conditions such as confined placental mosaicism for trisomy 16, prenatal surveillance for fetal growth and close surveillance for preeclampsia may lead to improved perinatal outcomes, as even confined placental mosaicism may have significant clinical implications. 8 Next, although the PPV of cfDNA screening is lower for rare disorders, the test is still better than many accepted screening tests; the PPV for mammography and PAP smear screening, for example, are lower than for cfDNA screening for microdeletions. And certainly, the PPV even for rare microdeletions appears to be higher than for first trimester combined screening, which is a highly accepted test.…”

“…Other arguments against expanding cfDNA screening include the fact that cfDNA tests the placental DNA, and many rare aneuploidies are largely confined to the placenta. However, for conditions such as confined placental mosaicism for trisomy 16, prenatal surveillance for fetal growth and close surveillance for preeclampsia may lead to improved perinatal outcomes, as even confined placental mosaicism may have significant clinical implications …”