The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identi...

Nigeria has the highest population of sickle cell anemia (SCA) patients in the whole world. This condition manifests with frequent episodes of aches and pains, recurrent infections, and frequent hospitalization. Prenatal screening is one of the methods of reducing the prevalence of this disease. The study aimed to determine the awareness and acceptability of prenatal screening for SCA among hea...

AIMS In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice. RESULTS During the 2-day symposium, participants discussed the implications of the shift toward broader prenatal screening using cell-free placental DNA in maternal serum (cfDNA screening). Key topics included challenges around the ...

 Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenatal diagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (ART). In this case, the diagnosis of harlequin ichth...

background: fetal nasal bone assessment is a non-invasive procedure that helps provide even greater assurance to patients undergoing their first trimester risk assessment for aneuploidies. absence or presence of this factor is different in some races. objective: the study was aimed to evaluate nasal bone in the first trimester of pregnancy in the indigenous population of khuzestan province, and...

OBJECTIVES Our aim is evaluating the need for repeating tests for syphilis on pregnant women in the third trimester. STUDY DESIGN A single-center retrospective cohort study was performed on all women delivering 7/03-6/04. RESULTS During the study interval, 2244 women delivered at our hospital. Of those women having available records and attending at least one prenatal visit, 1940 (98.9%) we...

Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriat...

BACKGROUND Prenatal screening deals with the detection of structural and functional abnormalities in the fetus. Health care providers can minimize unintended pregnancy outcomes by providing proper counseling and performing prenatal screening. The purpose of the present review study is to investigate factors affecting improved prenatal screening. METHODS The present study is a narrative review...

Background Down syndrome screening at first-trimester may cause a higher false positive rate in pregnant patients who have undergone assisted reproductive technologies (ART). Combining the second largest series of biophysical and biochemical tests in the first trimester of pregnancy after ART is mentioned in few studies. MaterialsAndMethods Ghisoni et al explored that NT measurement between ART...