Abstract | Revitalizing Women's Healthcare Together

September 29-30, 2023 

Correspondence to: giselavaler@yahoo.com
Gisela Valer-Chávez1; Wilder Rodrigo Calmet-Rocca2;

1Private practice Naprotecnología y Fertilidad Natural Perú., Lima, Peru. 2Universidad Peruana Cayetano Heredia. Alberto Hurtado Faculty of Medicine, Lima, Peru.
Author Affiliations

Title: Chromosomal polymorphisms and coexisting inherited thrombophilic states as a cause of recurrent pregnancy loss. Case series report.

Background: Recurrent pregnancy loss (RPL) could be considered after the loss of two or more pregnancies, occurs in approximately 1.5 %- 3% of all pregnancies, however 50% remains idiopathic. Polymorphic variants are structural variations in chromosomes that usually occur in the pericentromeric heterochromatin on the long arms of chromosomes 1, 9, and 16 and the distal heterochromatin of the Y chromosome. Recent studies indicate that chromosomal polymorphisms may cause certain clinical effects, such as infertility and spontaneous miscarriage. Pro-thrombophilic factors have also been suggested as one of the major causes of RM. In fact, some genetic polymorphisms of prothrombin (FII G 20210A), Factor V (Factor V Leiden, FVL) and methylene tetrahydrofolate reductase (MTHFR, C677T gene variant) genes were strongly associated with recurrent miscarriages. We present 03 cases of chromosomal polymorphisms and coexisting inherited thrombophilic states as a cause of recurrent pregnancy loss in Peru. This is the first report of its kind in our country.

Design
Case report and literature review.

Setting
Private practice in Lima-Peru.

Patient(s)
Case 1: 36 y/o female. RPL at 26 and 34 years old.
Case 2: 40 y/o female. RPL.
Case 3: 42 y/o female, consults for recurrent pregnancy loss, 01 loss at week 15th and 01 failed IVF attempt 4 years before appointment.

Medical history case 1: Unremarkable
Medical history case 2: Sister: Autoimmune glomerulonephritis
Medical history case 3: Unremarkable

PE case 1: Unremarkable. BMI 22.
PE case 2: Unremarkable. BMI 20.
PE case 3: Unremarkable. BMI 19.

Laboratory case 1:

1/28/23: FSH: 14.32 Insulin: 6.28 E2: 51 P4:22.7 Glucose: 100mg/dL
2/9/23: Anti-thrombin III: 68% (80-130)
PTT: 25.5 (26-60)
Karyotype (10/10/22): 46 XX, 16qh+
C677T heterozygous mutation on MTHFR gen.

Laboratory case 2:
5/29/23: Glucose: 96mg/dL, AMH 0.39, P4: 19.6ng/mL, Vitamin D: 24,8.
Kariotype: 46, XX, 9qh+ (Figure 1). 46 XY, 21pstk+.
C677T homozygous mutation on MTHFR gen.
Homocysteine: 8.42 (0-15)
6/2/23: BHCG (+) 6512 mg/dL

Laboratory case 3:
Unremarkable. BMI:19
Laboratory results:
P4: 19.6ng/mL. Vitamin D: 27.7. VSG: 40. FSH: 17.4
Couple spermogram and semen culture: Normal
Karyotype: 46, XX, 9qh+.
C677T heterozygous mutation on MTHFR gen.

Main Outcome Measure(s) Description and discussion of clinical, laboratory and imaging findings of the three cases

Results:

Case 1: Polymorphism of chromosome 16qh+ + C677T heterozygous mutation on MTHFR gen.

Case 2: Polymorphism of chromosome 9qh+ + C677T homozygous mutation on MTHFR gen. Currently pregnant.

Case 3: Polymorphism of chromosome 9qh+ + C677T heterozygous mutation on MTHFR gen.

Conclusions:
Parental karyotyping and screening for hereditary thrombophilia should be conducted in RPL patients, in order to define a more precise prognosis and treatment from a “patient centered” perspective to RPL women/couples being treated in a restorative reproductive approach. More research needs to be conducted in women/couples with RPL presenting chromosomal polymorphisms and hereditary thrombophilias.

Keywords:

Recurrent pregnancy loss, inherited thrombophilias, chromosomal polymorphism, methylene tetrahydrofolate reductase (C677T).