ABSTRACT
OBJECTIVES: The aim of the study was to analyze the origin of birth defects in pregnant women from the Kujawy-Pomerania Region, and to identify factors affecting the formation of developmental disorders in the Province. MATERIAL AND METHODS: The correlation between maternal age and fetal defects was investigated. We also attempted to determine whether environmental or family factors play a role in the formation of fetal abnormalities. RESULTS: The analysis confirmed a correlation between the incidence of chromosomal aberrations and maternal age. CONCLUSIONS: Higher rates of neural tube defects were observed in fetuses born to mothers who did not take folic acid. The influence of other factors on developmental anomalies was not confirmed.
Subject(s)
Down Syndrome/epidemiology , Folic Acid/administration & dosage , Neural Tube Defects/diagnosis , Neural Tube Defects/epidemiology , Prenatal Diagnosis/methods , Ultrasonography, Prenatal/statistics & numerical data , Vitamin B Complex/administration & dosage , Adult , Chromosome Disorders/epidemiology , Down Syndrome/diagnosis , Down Syndrome/prevention & control , Female , Humans , Incidence , Maternal Age , Middle Aged , Neural Tube Defects/prevention & control , Poland/epidemiology , Pregnancy , Pregnancy Complications/epidemiology , Retrospective Studies , Risk FactorsABSTRACT
Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10,000 births. In the following report we have described a prenatally diagnosed case of recurrent thanatophoric dysplasia in the same patient.
Subject(s)
Pedigree , Pregnancy Trimester, Second/genetics , Thanatophoric Dysplasia/diagnostic imaging , Thanatophoric Dysplasia/genetics , Fatal Outcome , Female , Humans , Pregnancy , Ultrasonography, PrenatalABSTRACT
Holoprosencephaly is a brain malformation caused by abnormal division of the forebrain into two separate hemispheres. Abnormal structures of the central nervous system often occur with other midline forebrain and face failures. In this report we present a case of a prenatal diagnosis of holoprosencephaly.
Subject(s)
Holoprosencephaly/diagnostic imaging , Holoprosencephaly/embryology , Ultrasonography, Prenatal , Adult , Fatal Outcome , Female , Humans , Infant, Newborn , Pregnancy , Pregnancy Trimester, ThirdABSTRACT
Smith-Lemli-Opitz syndrome (SLOS) is a hereditary, autosomal recessive abnormality of cholesterol metabolism, leading to malformations of multiple organs. It is probably one of the most frequent metabolic disorders but variable clinical presentation makes the diagnosis of the syndrome difficult. The authors of the following work present a case report of prenatal diagnosis of SLOS in fetus with malformations of multiple organs and negative family history.
