PB1410 - The prenatal assessment of congenital bleeding disorder in carrier women with menorrhagia

Background: Heavy menstrual bleeding in the absence of any pelvic pathology raises the possibility of an acquired or inherited bleeding disorder. The prevention of these bleeding disorders is possible through prenatal diagnosis of fetal genetic disease.

Aims: The aim is to evaluate the early diagnosis and management of menorrhagia and to assess the prenatal status of congenital bleeding disorder in carrier mother

Methods: This study was conducted at National Institute of Blood Diseases from 2019 to 2021. Medical history was collected by using patient’s performa and prenatal testing was performed through Chorionic villus sampling (CVS) for the detection of congenital bleeding disorder in the fetus. CVS samples were collected through an ultrasound guided procedure and gene sequencing was run on extracted genomic DNA for respective factor defect (SPSS-version 23).

Results: A total of 98 females with frequent complaints of Menorrhagia were recruited in the study; out of which 42(42.8%) were having one of the factor deficiency as FVIII; 8(18.6%), FVII & GT 6(14%) in each, and VWD 5(11.6%), with median age 23(IQR=10) years. Consanguinity in 31(73.8%) and positive family history was reported in 30(71.4%) patients, history of complications includes; 20(47.6%) anemia, 10(23.8%) thrombocytopenia, 6(14.2%), PCOs, 4(9.5%) fibroid and 2(4.7%) hemorrhagic ovarian cyst. Significant association between frequency of menorrhagia with congenital bleeding disorder were observed (p-value=0.034 as showed in Figure 1). Management with pack red cell, fresh frozen plasma, Novo-seven and plasma concentrates were given to reduce frequent bleeding events in females. Apart from that 30(71.4%) carrier mothers had pregnancies who were screened at 12 week for prenatal testing; 5(16%) had affected fetus while 25(83.3%) fetuses were either carrier or normal.

Conclusion(s): Prenatal testing through CVS is safe and effective way of prevention, early diagnosis and appropriate management may furnish better life style in future.