misoprostol and Abnormalities--Multiple

Methotrexate, a methyl derivative of aminopterin, is a folic acid antagonist and a known human teratogen; misoprostol is a synthetic prostaglandin E1 analog that causes uterine contractions. Recently, there has been resurgence in the use of methotrexate in combination with misoprostol or of methotrexate alone for the treatment of unwanted or ectopic pregnancies, respectively. This report documents the findings in four infants who were exposed prenatally to methotrexate alone or in combination with misoprostol in a failed attempt at medical abortion or treatment of ectopic pregnancy. All patients demonstrated growth deficiency, with growth parameters <10th centile, and all displayed features consistent with methotrexate and/or misoprostol embryopathy. Since an increasing number of medical abortions are being performed, it is important for physicians to recognize the associated teratogenic effects of these abortifacients. Data from the patients herein described should prompt obstetricians and other health care practitioners who prescribe these medications to counsel their patients regarding these risks, especially if the treatment regimen fails to induce an abortion.

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Abortion, Induced; Female; Humans; Infant; Male; Methotrexate; Misoprostol; Pregnancy; Pregnancy, Ectopic

Gomez-López-Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.

Topics: Abnormalities, Multiple; Alopecia; Cerebellum; Child; Child, Preschool; Craniofacial Abnormalities; Female; Growth Disorders; Humans; Magnetic Resonance Imaging; Misoprostol; Neurocutaneous Syndromes; Phenotype; Rhombencephalon; Trigeminal Nerve

Topics: Abnormalities, Multiple; Abortion, Induced; Adult; Child, Preschool; Comparative Genomic Hybridization; Female; Fibroma; Genetic Testing; Humans; Limb Deformities, Congenital; Methotrexate; Microcephaly; Misoprostol; Musculoskeletal Abnormalities; Phenotype; Pregnancy

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Abortion, Induced; Adolescent; Female; Humans; Methotrexate; Misoprostol; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second

The association between fibular dimelia and mirror polydactyly of the foot is considered to be a very rare lower-limb abnormality. On the other hand, VACTERL is an acronym for a nonrandom association of congenital anomalies for which the etiology is still poorly understood.. The patient was a seven-month-old white girl whose mother had used misoprostol in the second month of pregnancy to induce abortion. On clinical evaluation, she was small for her age and presented hypotonia, anteverted nares, long philtrum and carp-like mouth. Her left hand had a reduction defect, with absence of the extremities of the second, third and fifth fingers and camptodactyly of the fourth finger. The ipsilateral lower limb presented significant shortening, especially rhizomelic shortening. Her left foot had a mirror configuration with seven toes and no identifiable hallux. The pelvis was hypoplastic. Esophageal atresia with tracheoesophageal fistula and imperforate anus were detected during the neonatal period. Abdominal ultrasound identified agenesis of the right kidney and left pyelocaliceal duplication. Radiographic evaluation on the left side showed iliac and femoral hypoplasia, absence of the tibia with a duplicated fibula and seven metatarsals and toes with no identifiable hallux on the foot. Echocardiography demonstrated an atrial septal defect. Based on the literature, we believe that the spectrum of malformations presented by our patient may be related to the vascular disruptive effect of the misoprostol. However, we cannot rule out the possibility that this association might simply be a coincidence.

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Female; Fibula; Foot Deformities, Congenital; Humans; Infant; Misoprostol; Polydactyly

We report a case of a fetus with shortened proximal long bones, ambiguous genitalia, intrauterine growth restriction and abnormal umbilical artery Doppler velocities observed on antenatal ultrasound exam. At 34 weeks the patient revealed methotrexate/misoprostol exposure at 6 weeks gestational age in attempted medical termination of pregnancy. On newborn exam, the baby had dysmorphic facial features, a short torso, scoliosis, a micropenis (phallus <1 cm) and shortened proximal long bones both upper and lower extremities. X-ray exam revealed a hemivertebra at T10 level, rib abnormalities, shortened proximal long bones, an absent pubic bone and bilateral knee ossification centers. With methotrexate exposure, improved counseling and surveillance could potentially avoid these significant abnormalities and prevent psychological distress.

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Abortion, Induced; Adult; Female; Humans; Infant, Newborn; Male; Methotrexate; Misoprostol; Pregnancy; Pregnancy Outcome; Pregnancy Trimester, First

To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study.. In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt.. In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three).. Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adolescent; Autistic Disorder; Child; Child, Preschool; Eye Abnormalities; Female; Goldenhar Syndrome; Humans; Male; Misoprostol; Mobius Syndrome; Severity of Illness Index; Teratogens; Thalidomide

Fetal aminopterin/methotrexate syndrome was described nearly 50 years ago when these agents were first used as abortifacients. Physicians essentially stopped using these agents when the associated anomalies were recognized. Over the last several years the use of methotrexate with or without misoprostol for management of ectopic pregnancy and medical terminations of pregnancy has increased.. A 23-year-old female sought a termination at eight weeks gestation. She was given methotrexate followed by misoprostol.. The medical termination was unsuccessful. The patient elected to continue the pregnancy secondary to financial considerations. She presented at 39 weeks without intervening prenatal care. She was diagnosed with severe preeclampsia. At delivery the infant was hypotonic and growth restricted with multiple anomalies.. Physicians are increasingly using methotrexate with or without misoprostol for treatment of ectopic pregnancies and medical terminations. Clinicians need to be aware of the characteristic teratologic effects of these two agents.

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Abortion, Incomplete; Abortion, Induced; Adult; Female; Growth Disorders; Humans; Infant; Methotrexate; Misoprostol; Pregnancy

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Humans; Infant; Infant, Newborn; Male; Misoprostol; Phosphoric Monoester Hydrolases; Proteus Syndrome; PTEN Phosphohydrolase; Tumor Suppressor Proteins

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Abortifacient Agents, Steroidal; Abortion, Induced; Adult; Drug Combinations; Female; Fetus; Humans; Mifepristone; Misoprostol

A 37-year-old pregnant woman, gravida 2, para 0, was referred to Ramathibodi Hospital at 31 weeks of gestation with the diagnosis of hydrocephalus and polyhydramnios. Repeated ultrasound scans revealed hydrocephalus with macrocephaly (BPD=10.3 cm), polyhydramnios (AFI=31.5), and a suspected esophageal atresia. After counseling, both parents decided not to pursue the pregnancy and requested vaginal delivery. They decided against transabdominal, ultrasonic-guided cephalocentesis because of its invasiveness, patient's awareness, and pain. Skull decompression with the modified Smellie's perforator was performed after five 400-microg doses of misoprostol were applied to dilate the cervix. The post-partum condition was uneventful. Fetal skull decompression with the modified Smellie's perforator and misoprostol for cervix dilation is a useful, simple, and safe procedure that can be performed with no previous experience.

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Abortion, Induced; Adult; Extraction, Obstetrical; Female; Fetal Diseases; Humans; Hydrocephalus; Misoprostol; Polyhydramnios; Pregnancy; Pregnancy Trimester, Third; Skull; Surgical Instruments; Ultrasonography, Prenatal

To assess the effect of changing the regimen for second trimester induction of labour from gemeprost to mifepristone/misoprostol.. A retrospective study at a university teaching hospital over the 5-year period 1993-1997. SUBJECTS, METHODS and REGIMENS: 68 patients, 34 in the gemeprost group and 34 in the mifepristone/misoprostol group. The gemeprost group received 1mg vaginally every 3h to a maximum of five doses. The mifepristone/misoprostol group were pre-treated with 600 mg mifepristone orally followed by 800 microg misoprostol vaginally and then 400 microg orally every 3h to a maximum of four oral doses.. Induction to abortion interval; delivery within 24h.. The mifepristone/misoprostol group had a lower induction to abortion interval compared to the gemeprost group (median 8.9h versus 19.8h, respectively, p<0.01). The mifepristone/misoprostol regimen was more successful than the gemeprost regimen; 94% versus 68%, respectively, aborted without extra medical or surgical intervention, p=0.02. There were no significant differences in side effects, analgesia requirements or complications between the two groups. Three patients with previous Caesarean sections had a ruptured uterus; two from the gemeprost group and one from the mifepristone/misoprostol group.. The new mifepristone/misoprostol regimen was more effective in second trimester induction of labour. Induction of labour with misoprostol or gemeprost should be used with care in patients with a previous Caesarean section.

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Abortion, Therapeutic; Administration, Intravaginal; Administration, Oral; Adult; Alprostadil; Female; Fetal Death; Humans; Maternal Age; Middle Aged; Mifepristone; Misoprostol; Pregnancy; Pregnancy Trimester, Second; Reproductive History; Retrospective Studies; Treatment Outcome

We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.

Topics: Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Humans; Infant; Male; Misoprostol; Respiration, Artificial; Sleep Apnea Syndromes; Syndrome

Topics: Abnormalities, Multiple; Chorionic Villi Sampling; Female; Fetus; Humans; Infant, Newborn; Misoprostol; Pregnancy; Syndrome

Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal in Brazil. An uncertain number of these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug in the first trimester of gestation without success. The 7 patients presented with limb defects and in 4 of them a diagnosis of Möbius sequence was made.

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Abortion, Criminal; Brazil; Cranial Nerve Diseases; Ectromelia; Facial Paralysis; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant, Newborn; Male; Misoprostol; Pregnancy; Syndrome