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.

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

7. • 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

8. • 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

10. 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.

11. American fertility society classification
of mullerian abnormalities

12. Class I

13. 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.

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

16. • 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

17. • 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

18. 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.

19. • 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.

20. 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

21. 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.

22. 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.

23. • 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.

26. • 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

27. CLASS II

28. 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%)

29. CLASS III

30. 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.

31. CLASS IV

32. CLASS V

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

34. 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

35. • 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

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

37. 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

38. 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

39. 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

40. 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.

41. 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

42. 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

43. 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.

44. 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.