Midwifery
Antenatal and postnatal depression - Are Polish midwives really ready for them?
Magdalena CD, Tamara WK
Before January 2019, no established solutions regarding the screening, assessment, and treatment of patients suffering from perinatal depression exist ...
Read More
Source: PubMed
Prenat. Diagn. 2020 Jan 31
Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.
Taconet S, Dreux S, Guimiot F, Pettazzoni M, Allaf B, Spaggiari E, Rosenblatt J, Khung-Savatovsky S
There are many causes of fetal effusions, including the rare lysosomal storage diseases (LSDs). Vacuolated lymphocytes (VLs) are found in the blood of ...
Read More
Source: PubMed
Medicine (Baltimore)
The prevalence of spinal muscular atrophy carrier in China: Evidences from epidemiological surveys.
Li C, Geng Y, Zhu X, Zhang L, Hong Z, Guo X, Xia C
Spinal muscular atrophy (SMA) was the second most fatal autosomal recessive hereditary disease in clinic. There had been no detailed study to characte ...
Read More
Source: PubMed
Genet Test Mol Biomarkers
Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing.
Khan N, Akhtar N, Khan FF, Hussain S, Naeem M
Introduction: Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder characterized by an impaired urinary acidification process in di ...
Read More
Source: PubMed
BioTechniques 2020 Jan 30
Noninvasive prenatal diagnosis of hemophilia A by a haplotype-based approach using cell-free fetal DNA.
Chen C, Sun J, Yang Y, Jiang L, Guo F, Zhu Y, Li D, Wu R, Lu R, Zhao M, Chen F, Ni P, He Z, Peng Z
Aim: We aimed to demonstrate noninvasive prenatal diagnosis (NIPD) of hemophilia A (HA) using a haplotype-based approach. Methods: Two families at ris ...
Read More
Source: PubMed
