Fetal Deformation Research Articles

Maternal choice: Will it work both ways?

Apregnant woman whose living child was affected with cystic fibrosis (CF) sought prenatal testing for the disease at a university hospital in the Southwest. When testing revealed that the expected child would also be affected with the CF, the woman and her husband faced an agonizing decision. They ultimately decided not to abort the fetus. Their insurance company, a health management organization, had agreed to extend special coverage for this woman's prenatal testing. It decided as well that it would not provide medical coverage for an affected child, a child who would be born with a pre-existing condition on account of the prenatal diagnostic procedure. insurance company's message was clear: The parents could either abort the defective baby or struggle alone with the financial burden of a sick child. ''1 Although the HMO ultimately capitulated and agreed to cover the child's treatment, their initial policy serves as a sign of the new limits on maternal choice that may evolve as the capacity for prenatal diagnosis advances. The American College of Obstetridans and Gynecologists (ACOG) committee statement on maternal choice reflects serious concern about restrictions on maternal decision making in the management of pregnancy. In particular, the document addresses the use of court orders to mandate cesarean delivery and the use of the force of law against women who put their fetuses at risk because of certain personal habits or behavior. As stated in the document, Actions of coercion to obtain consent or force a course of action limit maternal freedom of choice, threaten the doctor-patient relationship, and violate the principles underlying the informed consent process. ''2 The ACOG statement was stimulated by the perception that some segments of society sought to restrict reproductive choice for women with the aim of protecting the fetuses they carry. Measures aimed at the criminalization of certain behaviors by pregnant women have been implemented in some states (e.g., Florida, Minnesota). Court orders mandating cesarean section delivery in the face of maternal refusal have been obtained in several jurisdictions. 3 Particular efforts have recently been aimed at limiting a woman's freedom to electively terminate a pregnancy. The last 20 years have also seen the discussion of a relatively subtle but perhaps more insidious form of restriction on maternal choice; this involves limiting choices made in the face of the prenatal diagnosis of fetal disease or deformity. Two decades ago, Bentley Glass, 4 in his presidential address to the American Association for the Advancement of Science, suggested that No

The Ethics of In Utero Fetal Surgery: A Possible Threat to the Autonomy of Pregnant Women?

Nurses caring for pregnant women must be aware of the developing capabilities of pediatric surgery to intervene in utero to attempt to correct fetal deformities once thought treatable only after birth. This technology may prove to be a source of ethical dilemmas for families and caretakers if some mothers refuse to consent to such beneficial surgery. Nurses caring for families in such a scenario must be aware not only of the rights and interests of both fetus and mother, but of the responsibilities of all of those interested—the family, the caregivers, and society. Full ethical analysis must include consideration of the effects of any decision on the overall health of the involved clients. While individual nurses will evaluate singular situations using different ethical guidelines, the primary ethical principle to be considered is how the autonomy of the individual pregnant woman is weighed vis a vis the interests of her fetus. Nurses are urged both in clinical practice and in the role of advocate regarding health policy to do their utmost to preserve the status of the individual as a respected, autonomous member of society.15

Cardiac and extra-cardiac anomalies as indicators for trisomies 13 and 18: a prenatal ultrasound study.

The purpose of the present study was to establish sonographic markers for prenatal diagnosis of trisomies 13 and 18. Retrospective analysis of sonographic morphology was therefore carried out in seven fetuses with trisomy 13, and 16 fetuses with trisomy 18. Gestational age ranged between 17 and 39 weeks (median 28 weeks). Polyhydramnios and symmetrical growth retardation were present in 14 of 23 fetuses. A cardiac anomaly was diagnosed in all 23 fetuses, the majority representing a ventricular septal defect (n = 8) or double outlet right ventricle (n = 8). Extra-cardiac anomalies were characterized by a high incidence of limb deformities (polydactyly, clenched hands, club feet; n = 15) and omphalocele (n = 7). We conclude that the combined appearance of cardiac and extra-cardiac anomalies should prompt fetal karyotyping. Cardiac anomalies in combination with fetal limb deformities and omphalocele are suspicious for trisomies 13 and 18.

Use of Oral and Topical Agents for Acne in Pregnancy

Dermatologists frequently are consulted by a pregnant patient or a woman of childbearing age who desires acne therapy. Because there are no published studies in which women took acne medications throughout pregnancy, information about safety must be obtained indirectly from studies in which the agents were taken for another indication during some portion of pregnancy. Oral tetracycline is associated with maternal liver toxicity and deciduous tooth staining in the infant, and tetracycline occasionally has been associated with other congenital anomalies. Maternal isotretinoin ingestion is associated with major craniofacial and cardiac deformities, as well as other congenital anomalies. Erythromycin, however, appears to be safe. Topical acne medications never have been implicated as a cause of fetal deformities in human beings. Dermatologists should be aware of potential toxic and teratogenic effects of acne medicines before prescribing them to women of childbearing age. Prompt reporting of adverse effects is encouraged.

Elevated Maternal Serum Alpha-Fetoprotein With Oligohydramnios: Ultrasound Evaluation and Outcome

Nineteen pregnancies evaluated for elevated maternal serum alpha-fetoprotein levels were found to have moderate to severe oligohydramnios. There were no survivors among six fetuses with ultrasound-diagnosed urinary tract anomalies. We followed 11 of the remaining 13 pregnancies with serial ultrasound examinations. When the second ultrasound examination demonstrated severely decreased amniotic fluid, the outcome was always poor (intrauterine death, perinatal death, or fetal deformations). Of the five cases in which the second ultrasound showed normal to moderately decreased fluid, there were four surviving infants. When no primary malformations are seen on the initial ultrasound examination, serial ultrasound evaluations of amniotic fluid volume help predict the pregnancy outcome.

Use of oral and topical agents for acne in pregnancy

Dermatologists frequently are consulted by a pregnant patient or a woman of childbearing age who desires acne therapy. Because there are no published studies in which women took acne medications throughout pregnancy, information about safety must be obtained indirectly from studies in which the agents were taken for another indication during some portion of pregnancy. Oral tetracyline is associated with maternal liver toxicity and deciduous tooth staining in the infant, and tetracycline occasionally has been associated with other congenital anomalies. Maternal isotretinoin ingestion is associated with major craniofacial and cardiac deformities, as well as other congenital anomalies. Erythromycin, however, appears to be safe. Topical acne medications never have been implicated as a cause of fetal deformities in human beings. Dermatologists should be aware of potential toxic and teratogenic effects of acne medicines before prescribing them to women of childbearing age. Prompt reporting of adverse effects is encouraged.

10 Cerebral handicap in full-term neonates related to the mechanical forces of labour

Sometimes the relationship between peripartum events and neonatal CNS injury is obvious: for example, following complete abruptio placentae or umbilical cord prolapse and occlusion with a delay of many minutes before delivery of the baby. These circumstances are, of course, rare in modern obstetrics. Usually, when a neonate develops neurological injury, a host of various potentially adverse peripartum factors are assumed to be the aetiology, but without definitive evidence. Among these latter factors are those we have focused on in this paper: the mechanical forces exerted on the fetal head during labour when the full-term fetus is in cephalic presentation. The mechanical events during the first stage of labour are reviewed, showing how uterine contractions result in cervical dilatation and descent and rotation of the fetal head. The consequences of these forces on the fetal intracranial pressure and blood flow are discussed: FHR remains normal up to a certain pressure threshold, above which decelerations occur. In other words, excessive pressures applied to the fetal head, either spontaneously (e.g. uterine tetany) or iatrogenically (e.g. traumatic forceps delivery or excessive fundal pressure) can increase fetal intracranial pressure to such a degree as to result in significant decreases in cerebral blood flow that are associated with fetal heart rate decelerations. Even when decelerations are simultaneous to contractions, decelerations cannot be considered as reflex and innocuous, as they are indeed associated with a decreasing cerebral blood flow. They must therefore be considered and evaluated in the management of labour. Cord compression and functional modifications of intervillous space by mechanical forces may further compromise the biological status of the fetus, leading to severe asphyxia. Neurological evaluation of the neonate within the first few days after delivery is currently the only way to provide the obstetricians with information on the possible consequences of an abnormal labour. The assessment of normality of the CNS in the neonate born at term, and its value in predicting late outcome are discussed. When abnormalities are detected after one or repeated assessments, abnormal neurological signs and symptoms are classified into three grades at the end of the first week. According to our data, a good correlation exists between this neonatal grading of cerebral dysfunction and late outcome. A careful evaluation of fetal head deformation, extensive caput succedaneum, and extensive retinal haemorrhages can help to interpret an abnormal labour retrospectively.(ABSTRACT TRUNCATED AT 400 WORDS)

Amniotic sheets.

Seventeen cases of an aberrant sheet of tissue in the amniotic cavity are described to expand and clarify previous observations of this entity. The sheet of tissue demonstrates a thickened base and a free edge that undulates. The fetus moves freely about the sheet of tissue. There are no associated fetal deformities, and infants have no manifestations of the amniotic-band syndrome. Evidence suggests that these sheets may originate from "wrapping" of the amniochorionic membrane over a uterine synechia. These benign sheets of tissue should not be confused with the amniotic-band syndrome.

Pathogenesis of congenital defects associated with Turner's syndrome: the role of hypoalbuminemia and edema.

Studies of prenatal fetuses with 45,X Turner syndrome have allowed for plausible hypotheses of how their pitting edema may lead to production of the associated congenital defects found in the condition. Hypoalbuminemia in these fetuses which are only about one-sixth the levels found in newborns and one-third the level in "control" fetuses may explain the edema. Malformation of the ear, hairline, neck webbing, nipples, coarctation, nails and horseshoe kidney can be related to embryonic and fetal deformation from edema.

Medical tactics for accrete twins

Double fetal deformities are a casuistic rarity.

The amniotic band syndrome: Antenatal sonographic diagnosis and potential pitfalls

Amniotic band syndrome causes a variety of fetal malformations involving the limbs, craniofacial region, and trunk. Six prenatally diagnosed cases of amniotic band syndrome are discussed. The diagnosis was based on sonographic visualization of either amniotic sheets or bands associated with fetal deformation or deformities in nonembryologic distributions known to characterize the amniotic band syndrome. Seven additional cases are considered in which an aberrant sheet of tissue with a free edge was visualized within the amniotic cavity but no restriction of fetal motion or subsequent deformity was demonstrated.

Recent improvements in perinatal mortality in Dundee

SummaryAn analysis was carried out of all perinatal deaths in Dundee resident women in the two 5-year periods 1968 to 1972 and 1977 to 1981. The total uncorrected perinatal mortality rate fell from 18.5 to 11.3 per thousand births between the two study periods. Fetal deformity deaths showed the greatest decrease, due mainly to the screening programme for neural tube defects. Antepartum haemorrhage deaths fell as a result of a reduction in the antepartum and intrapartum loss of babies of over 36 weeks maturity and in neonatal deaths before 35 weeks. There were fewer ‘premature, cause unknown’ deaths due to a decrease in stillbirths of small for dates infants and in neonatal deaths of immature infants. In the ‘mature, cause unknown’ group the death rate fell due to a reduction in intrapartum and postpartum deaths, but the antepartum death rate remained unchanged.

SEVERE FETAL DEFORMITIES ASSOCIATED WITH INGESTION OF EXCESSIVE ISONIAZID IN EARLY PREGNANCY

Abstract. There is general agreement that pregnant women with active tuberculosis require immediate treatment with some combination of isoniazid (INH), ethambutol, rifampin or streptomycin. Other than the possibility of fetal ototoxicity from streptomycin none of these drugs in normal dosages has proved teratogenous to the human fetus (1). We therefore report here a possible association between fetal malformations and excessive early maternal ingestion of INH.

Strangulation of the umbilical cord by amniotic bands: report of 6 cases and literature review.

The amniotic band syndrome is the triad of amnion-denuded placenta; fetal attachment to or entanglement by amniotic remnants; and fetal deformation, malformation, or disruption. Theories of pathogenesis and etiology of the syndrome are discussed. Amniotic bands occur in 1 of every 5000-15,000 births and are demonstrable in 1-2% of malformed infants. Nearly 10% of cases include umbilical cord strangulation. Six cases of umbilical cord strangulation by amniotic bands are presented, and 57 previously reported cases are reviewed. Two of the 63 were liveborn and 61 were stillborn, 3 of whom died intrapartum. Thirty had associated fetal abnormalities. Five were from multiple gestations. Outcome of the co-twin was determined by its presence within the same amniotic sac. Four fetuses beyond 28 weeks had short cords and were the only malformed fetuses in this age group. The earlier in gestation that amniotic bands form, the greater the likelihood of associated fetal abnormalities. All but 2 of 28 less than 32 weeks and only 4 of 35 greater than 32 weeks were malformed. A marked male predominance was noted in the former group, perhaps because the larger size and/or more vigorous movements of male fetuses promote early amnion rupture.

Fetal head deformation and congenital torticollis associated with a uterine tumor

Fetal head deformation and congenital torticollis associated with a uterine tumor

Factitious hematuria: Diagnosis by minor blood group typing

fetal deformation has been said to be a frequent cause. In this series 29% of infants had a prenatal history associated with intrauterine constraint, and an additional 41% had some prenatal factors which might have induced constraint. Intrinsic malformations within the sternomastoid muscle might also produce wryneck or potentiate later deformation. Six infants in the study had rare, large cavernous hemangiomas about the head. It is possible that these children have a syndrome involving vascular malformations of the skin and neck muscles. The abnormal vessels within the sternomastoid might be more susceptible to rupture, either spontaneously or after constraint. Four of the infants had no history to suggest deformation, but one was a breech twin and another had associated deformations at the ankles. Careful evaluation of neck movement would seem warranted in any child with a cavernous hemangioma, especially above the neck. Another malformation mechanism for wryneck may not involve damage to the sternomastoid at all. One infant had apparent right congenital muscular torticollis and ipsilateral shortening of the limbs. This may represent an example of right-sided hemiatrophy or left-sided hemihypertrophy which included the neck muscle. Further examples of both these malformational etiologies for torticollis will be needed to establish them as discrete entities. Regardless of etiology, diligent early therapy should be instituted for any infant with torticollis. Passive stretching exercises have been a recommended treatment, :~ and we found that most infants struggled against these neck manipulations but complied well with the active stretching program. We hope that early treatment of torticollis can prevent much calvarial distortion, and that helmet therapy becomes generally available for infants with a persistent severe asymmetry.

Intrauterine constraint and craniosynostosis.

Intrauterine constraint is responsible for a number of structural defects of the craniofacial and peripheral skeleton including plagiocephaly, micrognathia, congenital hip dislocation, and talipes equinovarus. This report describes five infants with serious craniofacial alterations, all attributable to intrauterine constraint. All five children had clinical and laboratory evidence strongly suggestive of craniosynostosis. In three of the five, sutural fusion was documented either at operation or at necropsy. In the other two the clinical course indicated that true synostosis was not present. In all cases the sutural involvement corresponded to the dimension in which head growth had been restricted. This determaination was based upon an assessment of the other craniofacial alterations that were present. The etiology of the intrauterine constrain was different in each case. Factors involved included breech presentation, primagravidity, uterine malformations, amniotic bands, and defects in fetal neuromuscular development, all of which are known to produce fetal deformations. As further evidence of severe constraint, fetal activity was greatly reduced during four of the five pregnancies. There was no history of craniosynostosis in other family members. We propose that in utero compression may lead to a spectrum of craniofacial defects that includes craniosynostosis when the constraint is particularly prolonged. The data suggest that mechanical forces may play a role in the etiology of some cases of craniosynostosis. The fact that head shape spontaneously remolded in one of the five cases suggests further that surgical correction may not be required in all cases in which constraint is the suspected etiology of the deformation. (Neurosurgery, 6: 39-44, 1980).

Ultrasound in the diagnosis of congenital anomalies

With high-resolution ultrasound equipment, it is now possible to diagnose certain fetal anomalies in the third trimester and in some cases before the twentieth week of gestation. During a 27 month period 2,548 ultrasound scans were performed in high-risk patients. An anomaly was diagnosed in 10 of 122 second-trimester patients who were at risk for recurrent fetal defects. Fetal deformity was also found in 26 third-trimester patients. Of the 2.8% of patients found to have polyhydramnios 18% were associated with various types of anomaly. With ultrasound it was possible to examine internal fetal anatomy and to identify abnormalities of the fetal cranium, spine, chest, abdomen, and limbs. These anomalies are reviewed here in detail. Based on ultrasonically derived information, second-trimester patients can be offered information concerning the status of their fetuses at risk genetically and physicians can better manage third-trimester patients with diagnosed fetal deformities.

Uterine malformation and fetal deformation

Beyond the enhanced miscarriage and prematurity associated with the structurally abnormal uterus, we have found 14 examples of fetal deformation secondary to uterine malformation with its consequent uterine constraint. In several instances the constellation of deformations had been misinterpreted as a multiple malformation disorder. One patient died of pulmonary hypoplasia, but all the survivors showed restoration toward normal form postnatally. Recognition of the basic problem allows for surgical reconstruction of the uterus, which is generally accompanied by an improved outlook for subsequent pregnancies.

The morphogenesis of beta-aminopropionitrile-induced rib malformation in fetal golden Syrian hamsters.

In order to provide information on the mechanism of beta-aminopropionitrile (betaapn) induced teratogenesis, the pathogenesis of a fetal rib abnormality was studied at relatively short time intervals following maternal treatment with 2,500 mg/kg aqueous betaapn on day 11 of gestation. Histochemical tests of ribs from betaapn-exposed fetuses indicated a slight decrease in the level of glycosaminoglycans but at a time when the defect was already morphologically established. Ultrastructural observations on the chondrocytes of ribs from betaapn-exposed fetuses revealed alterations in mitochondrial structure indicative of a slight cytotoxic effect for the teratogen. The mitochondrial changes were transient, occurring initially at three hours after treatment and lasting for nine hours. Alterations in the size of collagen fibres in the cartilage of the fetal rib were also observed in the offspring of betaapn treated females. The mean diameter of collagen fibres in the ribs of control fetuses increased throughout the course of the study. The mean diameter of fibres in the fetuses of betaapn-exposed females failed to show any increase and was found to be significantly less than controls as early as three hours following maternal administration. The results suggested that the principal factor in the production of the fetal rib deformity was fundamentally the same as that known to affect the adult; namely a defect in the extracellular maturation of collagen.