Retrospective analysis of stillbirth and induced termination of pregnancies: Factors affecting determination.

OBJECTIVE: The aim of this study was to identify the factors and frequencies of induced termination of pregnancies. MATERIALS AND METHODS: This is a retrospective study of 488 terminations of pregnancies (TOPs) between January 2011 and December 2021 to demonstrate the factors affecting the decision to terminate the pregnancy. All cases had been hospitalized to manage the induction of labor. Methods included serial multiple laminaria dilation of the cervix and administration of a cervical misoprostol suppository. After induction of labor, the subject may experience amniotomy, instrumental evacuation of the uterus, and even hysterotomy. Pre-procedure counseling included an agreement to share medical records (paper-based and electronic). We verified the indications for all patients seeking TOPs. All cases were performed according to known diagnostic classifications and divided into seven groups for analysis. RESULTS: The patient ages ranged from 12 to 46 years. The median maternal age was 34 years [interquartile range (IQR) 30, 37]; 52.2% had at least one prior delivery. The pre-procedure diagnosis was divided into seven groups including the following: chromosomal and genetic abnormalities (146/488, 29.9%), no intrauterine heartbeats (126/488, 25.8%), structural anomalies (84/488, 17.2%), elective termination (56/488, 11.5%), preterm premature rupture of membranes (PPROM) (42/488, 8.6%), cervical incompetence (32/488, 6.6%), and other conditions (2/488, 0.4%). After excluding elective terminations, the eleven-year rate of fetal death and stillbirth to births did not show significant changes from 2011 to 2021. CONCLUSIONS: Knowing the factors underlying the decision to induce intrauterine fetal death (IUFD) including reasons for objecting to pregnancy are important for obstetricians-they can offer better planning and medical counseling. It is important to educate all women about family planning to prevent large numbers of unwanted and unsafe pregnancy terminations.

Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis.

OBJECTIVE: To precision survey a fetal congenital primary aphakia molecular etiology. CASE REPORT: A case of 42 years old pregnancy woman prenatal diagnostic examination by amniocentesis conducted at 17 weeks' gestation and demonstrated a normal female karyotype. Trio studies based on chromosome microarray analysis (CMA) and Sanger's genetic analysis did not detect a pathologic variant of the FOXE3 gene. Fetal congenital primary aphakia accompanied with microphthalmia detected by sonography in the second trimester (22 weeks). MRI indicated bilateral absence of the lenses, consistent with primary congenital aphakia. Due to the poor prognosis of congenital aphakia, the parents decided to terminate the fetus and provided consent for an autopsy. Pathological analysis revealed dysplasia of the anterior segment of both eyes. However, post fetal mortem extended trio whole exon sequencing (WES) and Sanger's genetic analysis identified compound heterozygous variants in the chromosomal location 2p25.3 in the PXDN gene. CONCLUSION: Extended whole exon sequencing is an important tool to study primary congenital aphakia.

Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome.

OBJECTIVE: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. CASE REPORT: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling. A normal female karyotype was detected. The parents consented to chromosome microarray analysis (CMA), which identified a de novo mutation of the TCS1 gene locus on chromosome 5. CONCLUSION: Molecular CMA is an effective tool for prenatal diagnosis of congenital craniofacial abnormalities associated with Treacher Collins syndrome.

Novel prenatally diagnosed compound heterozygous POMT2 variants in fetal congenital primary aqueduct stenosis.

OBJECTIVE: To study the etiology of congenital hydrocephalus in genetic aqueduct stenosis. CASE REPORT: We report the case of a 31-year-old pregnant female, G2P0A1, with a history of hyperthyroidism under medical control. The patient received regular prenatal care, with no specific findings in the Level II ultrasound at 21 weeks of gestation. However, hydrocephalus was noted at GA 31 weeks. High-resolution sonography and fetal magnetic resonance imaging (MRI) reported fetal aqueduct stenosis. Maternal HSV, CMV, and toxoplasma infection were not detected. Fetal karyotype and chromosomal microarray analysis (CMA) indicated a normal. After intensive counseling, the parents decided to terminate the pregnancy due to the poor fetal prognosis. Post-mortem, a whole-exome sequencing (WES) and Sanger sequencing analysis trio study identified two compound heterozygous variants in the POMT2 gene inherited from both recessive parents. In the subsequent pregnancy, a WES survey revealed inheritance of only the maternal POMT2 gene variant; a live, healthy male baby was born. CONCLUSION: Extended WES represents a precision maternal medicine tool for novel prenatal diagnosis of congenital aqueduct stenosis.