During gestation, a fetus may be affected by factors that cause it to develop in anomalous ways. Yet it is not easy to determine what exactly are the causes of a given fetal malformation. Objectives: We investigated pregnant women's perceptions of what could be the causes of the fetal malformations they experienced. Methods: Qualitative interviews with 30 pregnant women and their families after an ultrasound scanning had detected a defect in the fetus. Results: Even though in many cases the working environment of either mother or father might have played a role in causing the malformation, the research showed that the parents themselves hardly ever blamed their working environment for the defect. The research also showed that most couples kept the malformation secret from their family, community and colleagues. This secrecy in combination with parental reluctance to consider the health impact of their working environment may make it difficult to combat possibly toxic working environments in Vietnam. Conclusions: In some cases, fetal malformations may be related to a toxic working environment. Yet in this study, a few pregnant women know that exposure to toxic chemicals at the workplace can play a role in causing a malformation in their fetus.
Fetus ; Fetus/abnormalities ; Environment

From 1/1999 to 9/2004, 12720 pregnancies were examined and underwent ultrasound in Ob-Gyn Deparment of Bachmai Hospital and 64 fetuses were found with congenital malformations. The fetal malformations rate was 0.5%. Fetal malformations were detected mainly at primipa. Youngest fetal age was 12 weeks. Mean fetal age when detecting malformations was 22.8 weeks. Single malformation was 68.8%. The most common defects were anecephaly (23.4%), hydrocephaly (20.3%), holoprosencephaly (12.5%). 73.4% of pregnancies with malformation fetuses were terminated successfully by putting Cytotec to cause labour. One case was operated and one was aborted after putting cytotec failed. Failure rate of causing labour by Cytotec was 4%
Fetus ; Fetus/abnormalities ; Diagnosis ; Ultrasonography ; Therapeutics

OBJECTIVETo study the etiology, pathogenesis, clinicopathologic characteristics, prognosis and treatment of congenital pulmonary airway malformation (CPAM).

METHODSEighteen cases of CPAM were enrolled into the study. The clinical history, autopsy findings and immunohistochemical results were evaluated, with review of literature. The pathogenetic mechanism, pathologic features and differential diagnosis of CPAM were studied.

RESULTSHistologic examination showed that 2 cases were classified as Stocker type I, 12 cases as type II, and 4 cases as type III. The lesion was unilateral and involved single lobe in 13 cases. The remaining 5 cases had bilateral diseases. Of the 18 cases studied, 12 cases showed single organ involvement and 6 cases had malformations affecting multiple organs. The associated malformations included cardiac anomalies (4 cases), polycystic kidney with gastrointestinal atresia (1 case) and nuchal cystic hygroma with hydrothorax (1 case).

CONCLUSIONSCPAM is a rare pulmonary disorder. The etiology of this non-neoplastic condition is unknown. Imaging analysis is a valuable tool to suggest CPAM, while definite diagnosis requires pathologic examination. The overall prognosis is determined by the presence of associated malformations, fetal hydrops and pulmonary hypoplasia.

Fetus in fetu is a very rare congenital abnormality in which one vertebrate fetus is enclosed within the abdomen of another fetus. With advancing ultrasound imaging technique, a few case of prenatal diagnosis is reported recently. A case of fetus in fetu with 6 X 6 X 4 cm sized cystic mass in the fetal retroperitoneum was diagnosed prenatally using ultrasound and confirmed by ultrasound and computer tomogram after delivery. This mass was removed completely from delivered baby and finally confirmed fetus in fetu by pathologic examination. Solid portion in this mass was composed of vertebral organization with limb bud, well-developed organ system.
Abdomen ; Congenital Abnormalities ; Fetus* ; Limb Buds ; Prenatal Diagnosis* ; Ultrasonography ; Vertebrates

Background: Down syndrome is a developmental disorder caused by an extra copy of chromosome 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 700 babies. The fetus having high risk for Down syndrome (OS) can be detected early by ultrasound. Objectives: The aim of the study is to find out some ultrasound markers that relate to OS fetus. Subjects and method: A descriptive study was carried out on 612 pregnant women with fetus \ufffd?12 weeks by ultrasound to detect abnormal markers in fetus. The fetus were diagnosed Down syndrome by analysis chromosome from amniocyte and monitor up to the neonate. Then, finding out association between OS fetus and ultrasound markers. Results: Among 612 pregnant women,36/12 pregnant women had abnormal imaging in fetus, 11/12 pregnant women had OS fetus. There were 12 pregnant women detected OS fetus. 6/12 OS fetus associated with the maker of nuchal skin fold (cut off 2: 3mm at the first trimester and 2: 6 mm at the second trimester): Detection rate (DR) was 50%; false positive rate (FOR): 0,83%. 3/12 OS fetus associated with the marker of duodenal atresia. DR was 25%; FOR: 0%. Conclusions: The two common markers associated with OS fetus: \r\n', u'the first marker was nuchal skin fold (with cut off 2: 3mm at the first trimester and > 6 mm at the second trimester) and the second marker was duodenal atresia. \r\n', u' \r\n', u'
Down Syndrome ; Fetus/ anatomy & ; histology ; abnormalities ; physiopathology ; ultrasonography

OBJECTIVE: To explore the genetic basis for fetuses with renal anomalies. METHODS: Genomic DNA of four fetuses and their parents was extracted from amniotic fluid and peripheral blood samples and subjected to whole genome sequencing. Candidate variants were predicted according to the American College of Medical Genetics and Genomics (ACMG) guidelines and validated by SNP-array and Sanger sequencing. RESULTS: Two fetuses were found to carry a 1.45 Mb pathogenic microdeletion in 17q12 and a pathogenic 1.85 Mb microduplication at 1q21.1-21.2, respectively. One fetus was found to harbor compound heterozygous variants c.8301del (p.Asn2768Thrfs*18) and c.4481del (p.Asn1494Thrfs*6) of the PKHD1 gene, which were predicted to be pathogenic. And one fetus has harbored homozygous c.1372dup (p.Thr458Asnfs*5) variants of the BBS12 gene, which was predicted to be likely pathogenic. All variants were validated by Sanger sequencing. CONCLUSION Whole genome sequencing can enable efficient prenatal diagnosis for fetuses with renal anomalies with high accuracy.
Female ; Fetus/abnormalities* ; Humans ; Pregnancy ; Prenatal Diagnosis ; Whole Genome Sequencing

OBJECTIVE: To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. METHODS: A fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis. RESULTS: Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46,XX,rec(8)(qter→q22.3::p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46,XX,inv(8)(p23.1q22.3), whilst that of her husband was normal. CONCLUSION The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 have differed from previously reported ones.
Humans ; Fetus/abnormalities* ; Chromosomes, Human, Pair 8 ; Female ; Pregnancy ; Karyotyping

A case of thanatophoric dwarfism is presented. The previous gestation was polyhydramniotic and aborted spontaneously at 19th week. The aborted fetus showed marked micromelia. Present gestation was also polyhydramniotic and terminated by therapeutic abortion at 31th weeks due to skeletal deformity representing thanatophoric dwarfism. The fetus shows typical characteristics of thanatophoric dwarfism. Grossly the fetus shows marked micromelia, narrowed thorax with relatively normal length of trunk, and enlarged head. In the radiograph the femur shows characteristic ‘ telephone receiver’-like form. And the histological observations shows marked disturbances of the endochondral ossification.
Aborted Fetus ; Abortion, Therapeutic ; Congenital Abnormalities ; Female ; Femur ; Fetus ; Head ; Pregnancy ; Telephone ; Thanatophoric Dysplasia* ; Thorax

Clinical features of 1 case of retroperitoneal parasitic fetus (PF) were retrospectively analyzed and Chinese literatures were reviewed. PF in China has 4 clinical features: 1) The incidence was extremely low and it was more common in infants and children. 2) The parasitic parts showed centrality. 3) The retroperitoneum and abdominal cavity were the most common parasite locations. 4) There was no gender difference in the incidence. Retroperitoneal PF should be distinguished from various benign and malignant abdominal tumors. Imaging was the optimal option for PF diagnosis and the axis bone system was its typical manifestation. Complete excision was the optimal treatment. Thick and large nutrient vessels may be found at where the placenta was attached, and should be ligated carefully. The outcome of this case was good because PF was completely excised.
Child, Preschool ; Congenital Abnormalities ; surgery ; Fetus ; abnormalities ; Humans ; Male ; Retroperitoneal Space ; surgery

OBJECTIVE: To evaluate the application of ultrasonography in prenatal diagnosis of left inferior vena cava and double inferior vena cava in fetus. METHODS: The clinical data and ultrasonographic findings of the fetuses with left inferior vena cava (18 cases) or double inferior vena cava (16 cases) were retrospectively analyzed. RESULTS: The ultrasonographic images of left inferior vena cava showed that in the transverse view of the fetal upper abdomen the inferior vena cava and abdominal aorta were in the normal position; below the level of the hilum, the inferior vena cava was located behind the left side of the abdominal aorta; at the level of the hilum, it crossed the front of the abdominal aorta and run diagonally to the upper right, forming the right inferior vena cava and finally entered into the right atrium. The ultrasonographic images of double inferior vena cava showed that in the transverse view of the fetal lower abdomen, in front of spine there were three transections of blood vessels; in coronal plane of abdomen, the veins run on both sides of the abdominal aorta and entered to the iliac vein of the same side. In 34 cases of abnormal inferior vena cava, there were 17 cases complicated with other system abnormalities, including 13 cases of cardiac anomalies. CONCLUSIONS The left inferior vena cava and double inferior vena cava have characteristic imaging findings, and prenatal diagnosis can be made with ultrasonography. This type of congenital deformity is frequently complicated with other system abnormalities, which should be excluded in fetus, especially for heart system.
Female ; Fetus ; abnormalities ; Heart Atria ; abnormalities ; Humans ; Pregnancy ; Retrospective Studies ; Ultrasonography ; Vena Cava, Inferior ; abnormalities ; diagnostic imaging