Mosaic Turner Syndrome With Multiple Spontaneous Pregnancies: A Case Report.

Turner syndrome (TS) is an abnormality of the X chromosome affecting females. This genetic defect causes infertility in most cases, but less commonly in patients with the mosaic form of Turner syndrome. In the rare event of a pregnancy, it usually leads to maternal and fetal complications, including miscarriage. In this study, we report a case of mosaic Turner syndrome (45,X/46,XX) in a 34-year-old female who presented to our outpatient clinic with a two-year history of secondary infertility following nine previous spontaneous pregnancies (SP). Her obstetric history showed two successful healthy pregnancies, seven first-trimester miscarriages, one intrauterine fetal demise (IUFD), and one infant death at six months of age. Cases of pregnancy in mosaic Turner syndrome patients are limited and have poor pregnancy outcomes; here, we aim for our case to contribute to the improvement of pregnancy outcomes in such patients.

Cases of RhD variants RhD*DAU2/DAU6 and RhD*weak D type 4.1 in pregnant women in Saudi Arabia.

The D antigen is one of the most immunogenic and clinically significant antigens of the Rh blood group system due to its various genotypes that encode for more than 450 different variants. Accurate RhD typing and D variant identification is crucial specially in prenatal screening during pregnancy. Women with RhD -ve phenotype are eligible to Rh immune globulin (RhIG) prophylaxis for the prevention of anti-D alloimmunization and hemolytic disease of the fetus and newborn (HDFN). However, there are some women who possess RhD variant alleles, who are mistakenly grouped as RhD positive and considered not eligible for RhIG prophylaxis, putting them at risk of anti-D alloimmunization and consequently leading to HDFN during subsequent pregnancies. Here, we describe  two cases of RhD variants DAU2/DAU6 and Weak D type 4.1 in obstetric patients who were grouped as RhD +ve with negative antibody screening during routine serologic  testing. Weak/Partial D molecular analysis using genomic DNA Red Cell Genotyping (RCG) revealed that both patients had RhD variants, one of which DAU2/DAU6 allele associated with anti-D alloimmunization. According to routine testing neither patients received RhIG or transfusion. In this case report we document to our knowledge the first reported cases of RhD variants among pregnant women in Saudi Arabia.

Celomic Fluid: Laboratory Workflow for Prenatal Diagnosis of Monogenic Diseases.

BACKGROUND: Celomic fluid can be considered as an ultra-filtrate of maternal serum, containing a high protein concentration, urea, and many other molecules. It is an important transfer interface and a reservoir of nutrients for the embryo. Celomic fluid contains fetal cells that can be used for prenatal diagnosis of monogenic diseases in an earlier gestational period than villocentesis and amniocentesis. OBJECTIVE: The purpose of this study was to evaluate the characteristics of celomic fluid and to establish a workflow laboratory procedure for very early prenatal diagnosis of monogenic diseases. METHODS: Three hundred and eighty-five celomatic fluids were collected between the seventh and tenth week of gestation. We sampled 1 mL of celomic fluid in all cases. The embryo-fetal erythroid precursor cells were selected by the anti-CD71 microbead method or by a direct micromanipulator pick-up on the basis of their morphology. We amplified the extracted DNA using a nested polymerase chain reaction. Primers for short tandem repeat amplification were used to perform a quantitative fluorescent polymerase chain reaction evaluation to control maternal contamination. RESULTS: We observed maternal contamination in 95% of celomic fluids with a range between 5 and 100%. No fetal cells were observed in 0.78% of celomic fluids. The number of fetal cells ranged from a few units to several hundred. Isolation of embryo-fetal erythroblasts selected by the micromanipulator made diagnosis feasible in all cases. CONCLUSIONS: The selection of fetal cells by a micromanipulator and nested polymerase chain reaction analysis made celomatic fluid suitable for early prenatal diagnosis of monogenic disorders even in the presence of high maternal contamination and few fetal cells. The procedure reported in this study provides the opportunity for the use of celomic fluid sampled by celocentesis as an alternative to chorionic villi sampling and amniocentesis, to allow invasive prenatal diagnosis at a very early stage of pregnancy.

Fetal Nucleated Red Blood Cells Preferable Than Cell-Free Fetal DNA for Early Determination of Gender Among Invasive and Non-Invasive Source Using Novel Four Genes Multiplex PCR.

BACKGROUND: Deoxyribonucleic acid from invasive, non-invasive and 9th week embryo can be a resource for the determination of fetal sex using highly sensitive and specific multiplex PCR. METHODS: A total of 402 DNA samples were used to test the newly developed novel multiplex PCR including male specific (3 genes: SRY, DAZ2 and TSPY1) Y-biomarkers and internal control, ACTB. The study isolated cffDNA (Cell-free fetal DNA; n = 73) from mother's plasma, serum and urine, fetal DNA from 9th week embryo and cord blood, and fetal DNA from CD71+ve nucleated red blood cells (fNRBC; n = 73). Paternal and maternal DNA from buccal cells (n = 20) and blood (n = 232) used for male and female confirmation. RESULTS: The study observed that SRY alone cannot be a suitable Y-biomarker. Confirmation from any two Y-biomarkers is mandatory for male fetus identification. Direct sequencing of the gel eluted multiplex and single amplicons confirmed the specific sequences. Presence of two out of 3 Y-biomarkers OR single Y-biomarker with >1,000,000 intensity is considered positive for male. The multiplex PCR is suitable for determining sex from all source of fetal DNA including highly degraded cffDNA and can detect the sex using 0.5ng DNA. Individual marker-based real-time qPCR followed by combined melt curve analysis showed distinguished melt curve peaks for the markers. CONCLUSION: The multiplex PCR achieved 100% accuracy on fetal DNA from fNRBC for early determinations (<13 weeks) of gender. The developed novel and simple multiplex PCR and individual qPCR can be adopted in all types of laboratories for determining human fetal gender using fetal DNA from fNRBC. Early identification of gender can support to prepare for possible X-linked analysis, reduce anxiety in mother, strengthen a bond between mother and fetus, and effective decision making. Non-invasive source of fetal DNA from fNRBC preferred for identifying gender to reduce the risk of invasive procedures in early (8-13 weeks) pregnancy.

Saudi Society of Maternal-Fetal Medicine guidance on pregnancy and coronavirus disease 2019.

[No Abstract Available]    Saudi Med J 2020; Vol. 41 (8): 779-790doi: 10.15537/smj.2020.8.25222 How to cite this article:Yaser A. Faden, Nadia A. Alghilan,  Samiha H. Alawami, Eman S. Alsulmi, Hythem A. Alsum, Yasir A. Katib, Yasser S. Sabr, Fadwah H. Tahir, Nabeel S. Bondagji. Saudi Society of Maternal-Fetal Medicine guidance on pregnancy and coronavirus disease 2019. Saudi Med J 2020; Vol. 41 (8): 779-790. doi: 10.15537/smj.2020.8.25222.

The use of progesterone during pregnancy to prevent preterm birth.

One of the most significant problems facing maternal and children health worldwide is preterm birth (PTB). Although strategies to increase the survival of premature infants have significantly improved in the past few decades, they have yet to be successful. Nine years ago, the use of progesterone in pregnancy was approved by the United States Food and Drug Administration (FDA) for PTB prevention. This paper reviews the recent evidence supporting the use of progesterone in pregnancy for PTB prevention and provides guidelines for its use in daily clinical practice. The guidelines address multiple current controversial areas regarding the prevention of PTB to aid physicians with their clinical decision-making practice, including the use in multifetal gestation, different formulations, safety in pregnancy, dose and route of administration.Saudi Med J 2020; Vol. 41 (4): 333-340doi: 10.15537/smj.2020.4.25036How to cite this article:Alsulmi ES, Alfaraj M, Faden Y, Al Qahtani N. The use of progesterone during pregnancy to prevent preterm birth. Saudi Med J 2020; Vol. 41: 333-340. doi: 10.15537/smj.2020.4.25036.