Congenital abnormalities of reproductive system

congenital anomalies of reproductive system

1. CONGENITAL ABNORMALITIES OF REPRODUCTIVE SYSTEM Mrs. Vahitha.S Lecturer CON JIPMER

2. INTRODUCTION The human female reproductive system (or female genital system) contains two main parts: the uterus, which hosts the developing fetus , produces vaginal and uterine secretions, and passes the male's sperm through to the fallopian tubes; and the ovaries , which produce the female's egg cells. These parts are internal; the vagina meets the external organs at the vulva, which includes the labia, clitoris and urethra. The vagina is attached to the uterus through the cervix, while the uterus is attached to the ovaries via the Fallopian tubes. At certain intervals, the ovaries release an ovum, which passes through the Fallopian tube into the uterus.

3. The internal reproductive organs include: Vagina : The vagina is a canal that joins the cervix (the lower part of uterus) to the outside of the body. It also is known as the birth canal. Uterus (womb): The uterus is a hollow, pear-shaped organ that is the home to a developing fetus . The uterus is divided into two parts: the cervix, which is the lower part that opens into the vagina, and the main body of the uterus, called the corpus. The corpus can easily expand to hold a developing baby. A channel through the cervix allows sperm to enter and menstrual blood to exit. Ovaries: The ovaries are small, oval-shaped glands that are located on either side of the uterus. The ovaries produce eggs and hormones.

4. Fallopian tubes: These are narrow tubes that are attached to the upper part of the uterus and serve as tunnels for the ova (egg cells) to travel from the ovaries to the uterus. Conception, the fertilization of an egg by a sperm, normally occurs in the fallopian tubes. The fertilized egg then moves to the uterus, where it implants into the lining of the uterine wall. Cervix: The Cervix (the lower part of the uterus that protrudes into the vaginal canal) has an orifice that allows passage of menstrual flow form the uterus and passage of sperm into the uterus.

5. Developmental anomalies incurred during embryogenesis. May be acquired during adulthood,sometimes during pregnancy.

6. Failure of fusion of the two müllerian ducts leads to separate uterine horns Failure of cavitation between them results in some degree of persistent uterine septum Uncommonly, there is cervical and vaginal duplication associated with a septate uterus

7. Vagina forms between the urogenital sinus and the müllerian tubercle by a dissolution of the cell cord between the two structures. Dissolution starts at the hymen and moves upward toward the cervix. Failure of this process is associated with persistence of the cell cord. Vaginal agenesis is the result of either failed caudal migration of the fused müllerian duct or incomplete cell cord resorption . The latter may result in complete vaginal obstruction, or, if less severe, partial persistence and a vaginal septum

8. GENESIS AND CLASSIFICATION OF MULLERIAN ABNORMALITIES 1. Defective canalization of the vagina results in a transverse septum, or in the most extreme form, vaginal agenesis. 2. Unilateral maturation of the müllerian duct with incomplete or absent development of the opposite duct results in defects associated with upper urinary tract abnormalities. 3. The most common abnormality is absent or faulty midline fusion of the müllerian ducts.

9. American fertility society classification of mullerian abnormalities

10. Class I

11. Atresia Complete atresia of the vulva includes atresia of the introitus and lower third of the vagina. In most cases, however, atresia is incomplete and results from adhesions or scars following injury or infection The defect may present a considerable obstacle to vaginal delivery, deep perineal tears may result. Labial Fusion Most commonly due to congenital adrenal hyperplasia. Imperforate hymen is persistence of the fusion between the sinovaginal bulbs at the vestibule Associated with primary amenorrhea and hematocolpos and is not encountered often during pregnancy.

12. Developmental abnormalities of the normal single vagina include: Vaginal agenesis Vaginal atresia Double vagina Longitudinal vaginal septum Transverse vaginal septum

13. Complete mullerian agenesis – pregnancy is impossible because uterus and vagina is absent About one third of women with vaginal atresia have associated urological abnormalities Complete vaginal atresia – precludes pregnancy by vaginal intercourse unless corrected operatively Incomplete septum – manifestation of faulty development, or the result of scarring from injury or inflammation In most cases of partial atresia , because of pregnancy-induced tissue softening, obstruction during labor is gradually overcome interferes with descent

14. Complete longitudinal vaginal septum usually does not cause dystocia because half of the vagina through which the fetus descends dilates satisfactorily. Incomplete septum, however, occasionally interferes with descent. Upper vagina is separated from the rest of the canal by a transverse septum with a small opening and some are associated with in utero exposure to DES

15. CERVICAL ABNORMALITIES Atresia . The entire cervix may fail to develop. This may be combined with incomplete development of the upper vagina or lower uterus Double cervix. Each distinct cervix results from separate müllerian duct maturation. Both septate and true double cervices are frequently associated with a longitudinal vaginal septum. Many septate cervices are erroneously classified as double. Single hemicervix . This arises from unilateral müllerian maturation. Septate cervix. This consists of a single muscular ring partitioned by a septum. The septum may be confined to the cervix, or more often, it may be the downward continuation of a uterine septum or the upward extension of a vaginal septum.

16. Uncorrected complete cervical atresia is incompatible with natural conception. In 2001 reported six successful pregnancies in four women with cervical atresia after creation of a utero vaginal anastomosis.

17. UTERINE MALFORMATIONS DIAGNOSIS Discovered by routine pelvic examination. Frequently they are discovered at cesarean delivery or first discovered at laparoscopy Sonographic screening for uterine anomalies, while specific, is not sensitive Sonohysterography can be used to differentiate septate and bicornuate uterus Hysteroscopy and hysterosalpingography (HSG) are of value in ascertaining the configuration of the uterine cavity MRI may be necessary to delineate müllerian duct anomalies and their extent. Accuracy of up to 100 percent in evaluation of müllerian duct anomalies

18. Urological Defects Asymmetrical reproductive tract abnormalities are frequently associated with urinary tract anomalies. When unilateral uterine atresia is present or when one side of a double vagina terminates blindly, an ipsilateral urological anomaly is common Auditory Defects Up to a third of women with müllerian defects will have auditory defects Typically these are sensorineural hearing deficits in the high-frequency range.

19. Uterine Anomalies in Wilms Tumor Survivors This rare malignancy appears to be associated with an increased incidence of congenital urinary and reproductive tract anomalies This might partially explain the increased rate of infertility reported in female survivors.

20. Defects that result from development of only one müllerian duct, or from lack of fusion,o ften give rise to a hemiuterus that fails to dilate and hypertrophy appropriately This may result in miscarriage, ectopic pregnancy, rudimentary horn pregnancy, preterm delivery, fetal growth restriction, abnormal fetal lie, uterine dysfunction, or uterine rupture.

21. Women with a unicornuate uterus have an increased incidence of infertility, endometriosis, and dysmenorrhea . Implantation in the normal-sized hemiuterus is associated with increased incidence of: spontaneous abortion preterm delivery intrauterine fetal demise

22. CLASS II

23. UTERINE DIDELPHYS (CLASS III) This anomaly is distinguished from bicornuate and septate uteri by the presence of complete nonfusion of the cervix and hemiuterine cavity Except for ectopic and rudimentary horn pregnancies, problems associated with uterine didelphys are similar but less frequent than those seen with unicornuate uterus Complications may include - preterm delivery (20%) - fetal growth restriction (10%) - breech presentation (43%) - cesarean delivery rate (82%)

24. CLASS III

25. Marked increase in miscarriages that is likely due to the abundant muscle tissue in the septum Pregnancy losses in the first 20 weeks were reported from the case studies - 70 percent for bicornuate - 88 percent for septate uterus There also is an increased incidence of preterm delivery, abnormal fetal lie, and caesarean delivery.

26. CLASS IV

27. CLASS V

28. CLASS VI Arcuate Uterus This malformation is only a mild deviation from the normally developed uterus.

29. MANAGEMENT Women with nonobstructive defects such as uterine didelphys and unicornuate uterus usually do not need surgical correction. Although abnormal fetal presentation is common, external cephalic version is less likely to be successful CERCLAGE Trans abdominal cerclage may offer the best prognosis for women with partial cervical atresia or hypoplasia Transvaginal cerclage has been used successfully in DES-exposed women with cervical hypoplasia

30. METROPLASTY Women with septate or bicornuate anomalies and poor reproductive outcomes may benefit from uterine surgery Repair of a bicornuate uterus is by transabdominal metroplasty involving septal resection and fundal recombination Repair of a septate uterus is usually by hysteroscopic septal resection

31. Development of rare vaginal clear cell adenocarcinoma . Increased risk of developing cervical intraepithelial neoplasia small-cell cervical carcinoma vaginal adenosis , Non- neoplastic structural abnormalities

32. Structural Abnormalities: transverse septa, circumferential ridges involving the vagina and cervix cervical collars smaller uterine cavities shortened upper uterine segments T-shaped and irregular oviduct abnormalities

33. Reproductive Performance Women exposed to DES in utero in general have impaired conception rates possibly associated with cervical hypoplasia and atresia Their incidences of miscarriage, ectopic pregnancy, and preterm delivery are also increased, especially in women with structural abnormalities Transgenerational Anomalies Genital tract anomalies have been described in the offspring of women exposed to DES when they were a fetus

34. ACQUIRED REPRODUCTIVE TRACT ABNORMALITIES Vulvar Abnormalities Edema Inflammatory Lesions Bartholin Gland Lesions Cysts of the Bartholin glands are usually sterile and need not reatment during pregnancy. If the cysts are large enough to cause difficulty at delivery, then needle aspiration as a temporary measure is sufficient. Abscess is present, broad-spectrum antimicrobials are given and drainage is established. Urethral and Bladder Lesions Condyloma Acuminata Venereal warts can be so extensive that vaginal delivery may be prohibited. Female Genital Mutilation

35. VAGINAL ABNORMALITIES Acquired vaginal abnormalities are uncommon Even after major trauma, long-term sexual and reproductive function is usually normal Vaginal stenosis may develop as a result of mucositis from graft-versus-host reaction following organ transplantation Partial Atresia Incomplete atresia may result from infection or trauma that leads to extensive scarring During labor , this is usually overcome by pressure from the presenting part, but occasionally incisions or even cesarean delivery are necessary.

36. Genital Tract Fistulas VESICOVAGINAL FISTULA following a McDonald cerclage done at 20 weeks VESICOUTERINE FISTULA that developed following vaginal delivery after prior cesarean delivery Rarely, the anterior cervical lip is compressed against the symphysis pubis with development of A VESICOCERVICAL FISTULA

37. CERVICAL ANOMALIES Cicatricial cervical stenosis is uncommon, but it may follow cervical trauma such as conization . Overall, both surgical and laser conization orloop excision for cervical intraepithelial neoplasia increase preterm delivery Conglutinated cervix may undergo almost complete effacement without dilation, with the presenting part separated from the vagina by only a thin layer of cervical tissue. Dilatation usually promptly follows pressure with a fingertip, although manual dilatation or cruciate incisions may be required. Finally, extensive cervical carcinoma may impair vaginal delivery

38. Uterine Abnormalities Anteflexion Exaggerated degrees of anteflexion frequently observed in early pregnancy are without significance. Marked anteflexion of the enlarging pregnant uterus usually is associated with diastasis recti and a pendulous abdomen. The abnormal uterine position sometimes prevents proper transmission of contractions; this is overcome by repositioning with an abdominal binder. Retroflexion The growing normally retroflexed uterus remains incarcerated in the hollow of the sacrum. Symptoms include abdominal discomfort and inability to void normally.

39. Uterine Prolapse The cervix, and occasionally a portion of the body of the uterus, may protrude to a variable extent from the vulva during early pregnancy. If the uterus persists in its prolapsed position, symptoms of incarceration may develop from 10 to 14 weeks. To prevent this, the uterus is replaced early in pregnancy and held in position with a suitable pessary .